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
ZAN	7455	broad.mit.edu	37	7	100348402	100348402	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:100348402C>T	uc003uwj.3	+	11	1569	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	ZAN_uc003uwk.3_Silent_p.L468L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	468	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCGAACTCCTCCTGGGAAGTC	0.622000														5			16		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10211599	10211599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:10211599C>T	uc021ogc.1	+	21	3747	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	UBE4B_uc001aqs.4_Missense_Mutation_p.S969F|UBE4B_uc001aqr.4_Missense_Mutation_p.S840F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.S424F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	969					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGGTACCTTCCCTGATGAAG	0.458000														3			40		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979965	145979965	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:145979965C>T	uc011dbv.2	-	8	1286	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	PPP2R2B_uc010jgm.3_Silent_p.S272S|PPP2R2B_uc003loe.3_Silent_p.S283S|PPP2R2B_uc003log.4_Silent_p.S283S|PPP2R2B_uc003lof.4_Silent_p.S283S|PPP2R2B_uc003loi.4_Silent_p.S286S|PPP2R2B_uc003loh.4_Silent_p.S283S|PPP2R2B_uc003lok.4_Silent_p.S272S|PPP2R2B_uc003loj.4_Silent_p.S263S|PPP2R2B_uc011dbu.2_Silent_p.S289S	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			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)			CATCCGAAATCGAAGAGATAA	0.428000														33			30		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502521	220502522	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:220502521_220502522CC>TT	uc002vmo.4	+	16	3044_3045	c.2835_2836CC>TT	c.(2833-2838)ttcctg>ttTTtg	p.945_946FL>FL	SLC4A3_uc002vmp.4_Silent_p.918_919FL>FL|SLC4A3_uc010fwm.3_Silent_p.468_469FL>FL|SLC4A3_uc010fwn.1_Silent_p.427_428FL>FL	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	918	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGCCGCTTCCTGGGGGGCAA	0.619000														20			28		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199026	155199026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:155199026G>A	uc021xge.1	-	22	5090	c.4813C>T	c.(4813-4815)Cca>Tca	p.P1605S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.P1567S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1605					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGGGGTTTGGAACTTTCTGC	0.547000														61			67		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962926	69962926	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962926A>G	uc003heg.4	+	0	734	c.688A>G	c.(688-690)Aag>Gag	p.K230E	UGT2B7_uc010ihq.3_Missense_Mutation_p.K230E	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	230					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTTGACATGAAGAAGTGGGA	0.313000														32			11		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46991809	46991809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:46991809C>T	uc003oyt.3	-	4	621	c.422G>A	c.(421-423)aGc>aAc	p.S141N	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.S141N	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	141					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						GACACTCTGGCTGAGGTTGTT	0.527000														43			51		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004731	248004731	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:248004731G>A	uc001idn.1	-	0	468	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCAGAAAGCCTGTGCTGA	0.577000														79			65		0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44329570	44329570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:44329570G>A	uc021yzz.1	+	4	516	c.415G>A	c.(415-417)Gat>Aat	p.D139N	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.D24N|SPATS1_uc003oxk.3_Missense_Mutation_p.D139N	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	139										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATTGCAGAAGATGGGCATCG	0.483000														211			87		0	0	1	0	0
UBXN8	7993	broad.mit.edu	37	8	30601740	30601740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:30601740C>T	uc003xii.3	+	0	51	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	UBXN8_uc010lvi.3_Missense_Mutation_p.L12F|UBXN8_uc011lbb.2_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	12					single fertilization					central_nervous_system(1)|lung(2)	3						CATTTTCTTCCTCTCTGCTGT	0.582000														19			7		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198968577	198968577	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:198968577A>G	uc010fsp.3	+	4	3420	c.3022A>G	c.(3022-3024)Aat>Gat	p.N1008D	PLCL1_uc002uuv.4_Missense_Mutation_p.N929D	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1008					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAACTTCATAATTTGGGGGC	0.353000														12			5		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15648358	15648358	+	Missense_Mutation	SNP	C	T	T	rs144983869	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15648358C>T	uc001ioc.1	-	17	1828	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	ITGA8_uc010qcb.1_Missense_Mutation_p.E595K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	610					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGGTGGATTCGTCCAAACTG	0.373000														27			11		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63594956	63594956	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:63594956C>T	uc003dlp.3	+	4	860	c.564C>T	c.(562-564)atC>atT	p.I188I	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.I168I|SYNPR_uc010hnt.3_Silent_p.I177I|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	168	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GCATGGCTATCCACAGCCCTG	0.398000														8			6		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131832147	131832147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:131832147C>T	uc004bxa.3	+	14	1664	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc004bxb.3_Missense_Mutation_p.S69F	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	493						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GGCTTCATCTCCCATTTCTAC	0.597000														13			86		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37522954	37522954	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:37522954G>A	uc004aac.3	-	6	1926	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	FBXO10_uc004aab.3_Nonsense_Mutation_p.Q600*|FBXO10_uc004aad.3_Nonsense_Mutation_p.Q150*	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	600						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTCCCCACTGATTCTCACGG	0.517000														0			3		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108112	17108112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17108112C>T	uc002nfb.3	-	10	1077	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	302						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						GGGATCATGTCCCTCACGCAG	0.617000														7			5		0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58675766	58675766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:58675766G>A	uc001xdf.3	+	3	386	c.283G>A	c.(283-285)Gta>Ata	p.V95I	C14orf37_uc010tro.2_Intron	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	95						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TATCGAATCGGTATTATGTCC	0.333000														44			34		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212240	236212240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:236212240G>A	uc001hxo.3	-	1	377	c.275C>T	c.(274-276)tCc>tTc	p.S92F	NID1_uc009xgd.3_Missense_Mutation_p.S92F	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	92					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCGGGATGGGATTCTTTGGC	0.532000														125			38		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697867	17697867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:17697867C>T	uc002rcl.1	-	0	1840	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E597K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	606										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAATGCATTCCTCTTCTAAT	0.269000														7			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736306	140736306	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140736306C>T	uc003ljq.2	+	0	1539	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I513I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	515	Cadherin 5.				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)			ATACAGGGATCCTATATGCTC	0.522000														85			63		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185017	167185017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:167185017C>T	uc003fes.1	-	2	405	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SERPINI2_uc003fer.1_Missense_Mutation_p.E102K|SERPINI2_uc003fet.1_Missense_Mutation_p.E102K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	102					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATGTAAATTCTTGTTTTTTC	0.328000														34			20		0	0	1	0	0
C14orf109	26175	broad.mit.edu	37	14	93652850	93652850	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:93652850T>A	uc001ybk.4	+	1	328	c.230T>A	c.(229-231)gTa>gAa	p.V77E	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.V115E|C14orf109_uc021sax.1_Missense_Mutation_p.V77E	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	109						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		ATTTTTCTGGTACCTTACTTA	0.443000														29			25		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18757519	18757519	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:18757519A>T	uc010exr.3	-	7	1378	c.1266T>A	c.(1264-1266)ttT>ttA	p.F422L	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.F480L|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.F420L|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.F480L|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.F463L|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.F497L|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.F482L|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.F420L	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	480					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GCTCCTTGGTAAAATGTTCAG	0.423000														22			26		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42818719	42818719	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:42818719C>T	uc002ihf.3	+	9	942	c.729C>T	c.(727-729)ttC>ttT	p.F243F	DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.3_Silent_p.F57F|DBF4B_uc010wjc.2_Silent_p.F243F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	243					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTCGTCCTTTCCATCATCAGT	0.493000														44			47		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578260	2578260	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2578260C>T	uc010uwc.2	+	6	838	c.741C>T	c.(739-741)atC>atT	p.I247I	AMDHD2_uc002cqp.3_Silent_p.I247I|AMDHD2_uc002cqq.3_Silent_p.I247I|AMDHD2_uc010uwd.2_Silent_p.I11I	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	247					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACCCAGGCATCGTGGGGCTCC	0.711000														66			25		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645836	8645836	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:8645836G>A	uc002mkj.1	-	25	3527	c.3253C>T	c.(3253-3255)Cag>Tag	p.Q1085*	ADAMTS10_uc002mki.1_Nonsense_Mutation_p.Q572*	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	1085	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGCAGAACTGAAATTTGAGC	0.627000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			8		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955419	30955419	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:30955419C>T	uc021vfn.1	-	18	1844	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.G600G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	604					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGATGAAGATCCCTCTGAGGA	0.617000														15			10		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48595627	48595627	+	Silent	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:48595627A>T	uc002efp.3	-	1	1164	c.927T>A	c.(925-927)atT>atA	p.I309I		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	309					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CATCGTGTAAAATCTCCCCCT	0.363000														72			40		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072405	17072405	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:17072405T>G	uc002zlp.1	-	0	1296	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	346					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCTGGCACTTGCCTGGCCTC	0.557000														14			128		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126075832	126075832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:126075832G>A	uc003yrt.3	-	10	1669	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KIAA0196_uc011lir.2_Missense_Mutation_p.S299L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	447					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCGCTCCGAACCCTCTTT	0.388000														31			50		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571443	71571443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:71571443C>T	uc021tkt.1	+	0	863	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CHST4_uc002fan.3_Missense_Mutation_p.S288F|CHST4_uc002fao.3_Missense_Mutation_p.S288F	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	288					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCCCAGACTTCCCGAATGTAT	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			32		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452553	138452553	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:138452553G>A	uc003ihe.4	-	0	1077	c.690C>T	c.(688-690)tcC>tcT	p.S230S	PCDH18_uc003ihf.4_Silent_p.S223S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.S10S|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	230	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTTTAGTATGGATGAGCCAG	0.453000														39			19		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222157	42222157	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42222157C>T	uc002orl.3	+	5	1469	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	CEACAM5_uc002orj.1_Silent_p.L449L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	450	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GTATTCTTGGCTGATTGATGG	0.522000														35			46		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718853	25718853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:25718853G>A	uc003xes.2	-	11	1401	c.1136C>T	c.(1135-1137)gCt>gTt	p.A379V	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	379					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.A379V(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCCATAAAGAGCTTCCACTAG	0.403000														61			29		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317956	31317956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:31317956G>A	uc003jhe.2	+	10	2167	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	CDH6_uc003jhd.2_Missense_Mutation_p.E603K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGCCATGCGGAGGCGCTCAT	0.572000														24			30		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591182	55591182	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55591182C>T	uc010qhy.1	-	30	4505	c.4110G>A	c.(4108-4110)aaG>aaA	p.K1370K	PCDH15_uc010qhq.2_Silent_p.K1370K|PCDH15_uc010qhr.2_Silent_p.K1365K|PCDH15_uc021pqv.1_Silent_p.K1365K|PCDH15_uc021pqw.1_Silent_p.K1377K|PCDH15_uc010qht.2_Silent_p.K1372K|PCDH15_uc021pqx.1_Silent_p.K1365K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.K1365K|PCDH15_uc021pqz.1_Silent_p.K1343K|PCDH15_uc010qhv.1_Silent_p.K1365K|PCDH15_uc010qhw.1_Silent_p.K1328K|PCDH15_uc010qhx.1_Silent_p.K1294K|PCDH15_uc010qhz.1_Silent_p.K1365K|PCDH15_uc010qia.1_Silent_p.K1343K|PCDH15_uc001jju.1_Silent_p.K1365K|PCDH15_uc010qib.1_Silent_p.K1343K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1365					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTCCTCTCTTTTTAATGC	0.483000										HNSCC(58;0.16)				20			29		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062480	53062480	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:53062480G>A	uc003xqz.2	-	10	2020	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	ST18_uc011ldq.1_Nonsense_Mutation_p.R269*|ST18_uc011ldr.1_Nonsense_Mutation_p.R587*|ST18_uc011lds.1_Nonsense_Mutation_p.R527*|ST18_uc003xra.2_Nonsense_Mutation_p.R622*|ST18_uc003xrb.2_Nonsense_Mutation_p.R622*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	622						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGATTCGATTTTTTTTC	0.413000														63			29		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052215	50052215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:50052215C>T	uc004dox.4	+	5	1344	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	CCNB3_uc004doy.3_Missense_Mutation_p.S349L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	349					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGAAGAAATCATTGGCCTTG	0.433000														4			35		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:73447448C>T	uc001jrx.4	+	17	2415	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627000														27			9		0	0	1	0	0
C1orf61	10485	broad.mit.edu	37	1	156376944	156376944	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156376944G>A	uc001fou.1	-	5	624	c.351C>T	c.(349-351)tcC>tcT	p.S117S	BC016978_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	117						nucleus		p.F116C(1)		large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					ggttagacatggagaaggact	0.473000														27			10		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103257169	103257169	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:103257169C>T	uc001vpi.4	+	1	295	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	64					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACCAAAAATCGTTGATATCA	0.343000														85			21		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122620069	122620069	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:122620069C>T	uc001ubq.3	+	10	1996	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	MLXIP_uc001ubt.3_Silent_p.L237L	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGCAGCATCCTGGTGACAGA	0.657000														5			6		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540744	28540744	+	Silent	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28540744A>G	uc003nlo.3	-	3	3540	c.2922T>C	c.(2920-2922)gcT>gcC	p.A974A		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	974					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						ctgtcattgaagctgcaccat	0.368000														103			29		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451247	105451247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:105451247G>A	uc022cca.1	+	0	1822	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	MUM1L1_uc004emg.2_Missense_Mutation_p.E608K|MUM1L1_uc004emf.2_Missense_Mutation_p.E608K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	608										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGTTGGATGAAGTGGTGAA	0.323000														4			11		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520836	70520836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:70520836C>T	uc001joo.3	+	15	2112	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Nonsense_Mutation_p.R470*|CCAR1_uc009xpx.1_Nonsense_Mutation_p.R639*|CCAR1_uc001jon.1_Nonsense_Mutation_p.R611*|CCAR1_uc010qiz.1_Nonsense_Mutation_p.R650*|CCAR1_uc010qja.1_Nonsense_Mutation_p.R650*|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	665	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.R665R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GTTAATAGCCCGATTGACAAA	0.368000														22			15		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362337	101362337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:101362337G>A	uc001pgk.4	-	2	1503	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	TRPC6_uc009ywy.3_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.R360C	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	360					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGATTTGGGCGACCGTGATCA	0.438000														10			59		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265188	52265188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:52265188C>T	uc002lfq.1	+	2	491	c.445C>T	c.(445-447)Cag>Tag	p.Q149*		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	149						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CATTGTTATCCAGCTATCCAC	0.453000														21			13		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014173	35014173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:35014173G>A	uc003jjf.3	-	9	1258	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.2_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	339					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.H339H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGACATCGTGGGTTTGGAAG	0.502000														28			27		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133393301	133393301	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:133393301G>A	uc001ukz.1	-	2	790	c.231C>T	c.(229-231)gaC>gaT	p.D77D	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.D77D|GOLGA3_uc001ulb.3_Silent_p.D77D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	77	Pro-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.P76S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACGACGGAGGGTCTGGGAAGG	0.612000														34			23		0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017588	177017588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:177017588C>T	uc002uks.3	+	1	935	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	229	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TCTTCCTCCTCATCTTGCTCC	0.547000														71			76		0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168683549	168683549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:168683549C>T	uc001gfp.3	-	1	371	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	114	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCTGGAATCCTGCCACCAG	0.542000														79			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784548	11784548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11784548G>A	uc002gne.3	+	54	10692	c.10624G>A	c.(10624-10626)Gaa>Aaa	p.E3542K	DNAH9_uc010coo.3_Missense_Mutation_p.E2836K|DNAH9_uc002gnf.3_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3542	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGACAAAGAATGTGAATA	0.453000														37			28		0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	150998085	150998085	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:150998085C>T	uc001ewh.1	+	4	751	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PRUNE_uc001ewi.1_Silent_p.F23F|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron|U6_uc021oyh.1_5'Flank|PRUNE_uc001ewk.1_Silent_p.F23F	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	205						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCCCTTTTCCCAGACCTAC	0.428000														104			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106367072	106367072	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:106367072C>T	uc021ser.1	-	3614		c.55699_splice	c.e3614-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		GGGGGCCTTCCCTTGCTGGGC	0.587000														18			5		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792381	87792381	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:87792381G>A	uc003ujn.3	+	22	2177	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	ADAM22_uc003ujk.2_Silent_p.G654G|ADAM22_uc003ujl.2_Silent_p.G654G|ADAM22_uc003ujm.3_Silent_p.G654G|ADAM22_uc003ujo.3_Silent_p.G654G|ADAM22_uc003ujp.1_Silent_p.G706G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	654	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGATGGGACACCTTGTG	0.398000														69			9		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2787242	2787242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:2787242G>A	uc003bpc.3	+	5	558	c.219G>A	c.(217-219)atG>atA	p.M73I	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.M73I|CNTN4_uc003bpd.1_Missense_Mutation_p.M73I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	73	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACACTGGTATGGATTTCCGCT	0.383000														47			55		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921413	24921413	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:24921413G>A	uc001ywo.3	+	0	873	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	133					cell differentiation|multicellular organismal development|spermatogenesis			p.P133P(2)		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)		CACGTGAGCCGGCGGTCAAGG	0.632000														28			17		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477212	3477212	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:3477212G>A	uc010vro.2	-	12	1884	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	TRPV1_uc010vrp.2_Silent_p.S546S|TRPV1_uc010vrq.2_Silent_p.S604S|TRPV1_uc010vrr.2_Silent_p.S606S|TRPV1_uc010vrs.2_Silent_p.S606S|TRPV1_uc010vrt.2_Silent_p.S606S|TRPV1_uc010vru.2_Silent_p.S606S	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	606					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CAGACGGCAGGGAGTCATTCT	0.622000														13			7		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928238	113928238	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:113928238G>A	uc009xxy.2	-	10	1149	c.939C>T	c.(937-939)ttC>ttT	p.F313F	GPAM_uc001kzp.3_Silent_p.F313F|GPAM_uc001kzq.1_Silent_p.F313F	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	313					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCCTTCCAGGAAGATCTCCA	0.423000														34			29		0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77378743	77378743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:77378743G>A	uc010ldt.1	+	2	750	c.706G>A	c.(706-708)Ggg>Agg	p.G236R		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	236	Lys-rich.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAACAGGTGGGAAGGAGAA	0.294000														0			7		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40767562	40767562	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:40767562C>T	uc001cfh.1	-	31	1905	c.1793_splice	c.e31-1	p.G598_splice	COL9A2_uc001cfi.1_Splice_Site_p.G417_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	598	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCACGTTTTCCTGTAGACAAA	0.483000														1			14		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14666552	14666552	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:14666552T>C	uc001mln.3	+	0	1284	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	PDE3B_uc001mlm.2_Missense_Mutation_p.C311R|PDE3B_uc010rcr.2_Missense_Mutation_p.C311R|PSMA1_uc001mll.3_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	311					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATGGCAGTTGCAAAATATT	0.552000														7			76		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669854	24669854	+	Silent	SNP	C	T	T	rs41277414	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:24669854C>T	uc001iru.4	+	2	814	c.411C>T	c.(409-411)gtC>gtT	p.V137V	KIAA1217_uc001irs.3_Silent_p.V57V|KIAA1217_uc001irt.4_Silent_p.V137V|KIAA1217_uc010qcy.2_Silent_p.V137V|KIAA1217_uc010qcz.2_Silent_p.V137V|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	137					embryonic skeletal system development	cytoplasm		p.P136L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGACCCGGTCGAGCATTTAT	0.512000														35			29		0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179292229	179292229	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:179292229C>T	uc003fjw.3	+	4	623	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ACTL6A_uc003fjx.3_Silent_p.F108F|ACTL6A_uc003fjy.3_Silent_p.F108F	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	150					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding	p.F149S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTGCCTTCTTCCTTTGCAAAA	0.388000														80			90		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673881	120673881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:120673881G>A	uc003eec.4	+	2	424	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R95Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	95					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGTGCTATACGAATGTATCCT	0.358000														21			28		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:43381975C>T	uc003cms.4	+	4	1260	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_uc003cmt.4_Nonsense_Mutation_p.R310*|SNRK_uc010hik.3_Nonsense_Mutation_p.R310*|SNRK_uc011azr.2_Nonsense_Mutation_p.R104*	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000														32			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594885	179594885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179594885G>A	uc021vsy.1	-	58	14735	c.14510C>T	c.(14509-14511)aCc>aTc	p.T4837I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1498I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5764	Ig-like 28.						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)			GCAAATGTAGGTTCCAGAATC	0.468000														20			24		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81736965	81736965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:81736965G>A	uc010tvu.2	-	4	2860	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	STON2_uc001xvk.1_Intron|STON2_uc010tvt.2_Missense_Mutation_p.P685S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	888					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGGTAGTGGGGTGAACAAAT	0.483000														64			47		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36839	36839	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrGL000241.1:36839C>T	uc011mgv.2	-	0		c.37G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GTATGTGACCCGGAGCAGCAC	0.577000														11			3		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871654	15871654	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15871654C>T	uc002nbo.3	-	8		c.1354G>A								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		GAATAAAAGCCAGAGGTGACC	0.572000														21			25		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542773	14542773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:14542773C>T	uc010dln.3	-	0	827	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	125										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGCGCTGTCGTCGTAGTCT	0.607000														69			34		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343804	248343804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:248343804G>A	uc010pzf.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000														258			81		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043405	56043405	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:56043405C>T	uc001nio.1	+	0	291	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGTCAATTTCCTGGCAAAAA	0.373000														5			40		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18324247	18324247	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18324247G>A	uc010xqc.2	-	12	2019	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	PDE4C_uc002nik.4_Silent_p.T513T|PDE4C_uc002nil.4_Silent_p.T513T|PDE4C_uc002nig.4_Silent_p.T228T|PDE4C_uc002nih.4_Silent_p.T283T|PDE4C_uc010ebk.3_Silent_p.T407T|PDE4C_uc002nii.4_Silent_p.T481T|PDE4C_uc002nif.4_Silent_p.T282T|PDE4C_uc010ebl.3_Silent_p.T227T	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	513					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCTCCACCATGGTCTTGAGGT	0.607000														14			16		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159682637	159682637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:159682637G>A	uc003lyb.1	-	5	1058	c.806C>T	c.(805-807)tCt>tTt	p.S269F	CCNJL_uc011dee.1_Missense_Mutation_p.S221F|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.S221F	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	269						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGTAGGGAGAAAGCTGCAG	0.522000														71			44		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99605676	99605676	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:99605676G>T	uc010nmz.3	-	3	4319	c.2643C>A	c.(2641-2643)aaC>aaA	p.N881K	PCDH19_uc004efw.4_Missense_Mutation_p.N834K|PCDH19_uc004efx.4_Missense_Mutation_p.N834K	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	881					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TATTCACGTAGTTGGAGTCAA	0.338000														1			13		3.03607e-14	3.08641e-14	1	1	0
KLHL15	80311	broad.mit.edu	37	X	24007015	24007015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:24007015G>A	uc004dba.4	-	3	1094	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	280										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTAGTTTGCGGTTTTGCAGAA	0.433000														12			54		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986667	44986667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:44986667G>A	uc003cod.3	-	2	698	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	ZDHHC3_uc003cog.3_Missense_Mutation_p.H142Y|ZDHHC3_uc021wws.1_5'UTR	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	142						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TACCTGCAGTGGTGGGCTCGG	0.572000														51			70		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835995	12835995	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:12835995G>A	uc001aui.3	+	1	624	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	199										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGAACACGGTGGAGCTAG	0.527000														17			72		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670140	99670140	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:99670140C>T	uc002bup.3	+	4	1692	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	SYNM_uc002buo.3_Silent_p.F524F|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	525	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAAAATGTTCGATTCTAAAG	0.448000														6			10		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058443	5058443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:5058443G>A	uc002cye.2	+	13	1774	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	532	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATCCTGGAAGGAGAGTCGGT	0.647000														18			9		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605076	52605077	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52605076_52605077CC>TT	uc001vgb.3	+	1	2698_2699	c.2136_2137CC>TT	c.(2134-2139)ttccaa>ttTTaa	p.Q713*	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Q713*	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	713					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGAGGGCTTTCCAAAAGCTGAC	0.495000														182			67		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107524289	107524289	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:107524289C>T	uc010hpr.3	+	17	3138	c.2811C>T	c.(2809-2811)tcC>tcT	p.S937S	BBX_uc003dwk.4_Silent_p.S907S|BBX_uc003dwl.4_Missense_Mutation_p.P601L|BBX_uc003dwm.4_Silent_p.S907S|BBX_uc003dwo.4_Missense_Mutation_p.P254L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	937					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TACTTATTTCCTGCGCTGACC	0.473000														59			29		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230105	21230105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:21230105C>T	uc002red.3	-	25	9763	c.9635G>A	c.(9634-9636)aGa>aAa	p.R3212K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3212	Heparin-binding.				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)	TGCATTGTTTCTGTTTTTTTC	0.363000														312			165		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600814	232600814	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:232600814G>A	uc001hvg.3	-	6	2750	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	SIPA1L2_uc001hvf.3_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	864					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGACTGGCCGAAGTCCCGGG	0.473000														108			49		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207619954	207619954	+	Missense_Mutation	SNP	C	T	T	rs138333507		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207619954C>T	uc002vbs.3	-	4	744	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.R230Q|MDH1B_uc021vvm.1_Missense_Mutation_p.R132Q	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	230					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CACCCTGCTTCGGAGGCAGTC	0.552000														28			35		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175072	207175072	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207175072G>A	uc002vbp.2	+	4	6070	c.5820G>A	c.(5818-5820)gcG>gcA	p.A1940A		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1940							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCCAGACAGCGAAAATCAGCC	0.448000														47			53		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040668	88040668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:88040668G>A	uc003dqr.2	+	1	927	c.769G>A	c.(769-771)Gac>Aac	p.D257N	HTR1F_uc021xbd.1_Missense_Mutation_p.D257N	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	257					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CCCATCAACAGACTTTGATAA	0.408000														20			27		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52339228	52339228	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:52339228T>A	uc003xqu.4	-	12	1717	c.1616A>T	c.(1615-1617)cAg>cTg	p.Q539L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	539	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATTATGGGCTGTGGTTCTCC	0.378000														11			4		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590118	24590118	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:24590118C>T	uc001wlv.3	+	11	1444	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	DCAF11_uc001wlw.3_Silent_p.S388S|DCAF11_uc001wlz.3_Silent_p.S288S|DCAF11_uc001wly.3_Silent_p.S344S|DCAF11_uc010tny.2_Silent_p.S255S|DCAF11_uc001wmc.3_Silent_p.S288S|DCAF11_uc001wmb.4_Silent_p.S362S|DCAF11_uc001wma.4_Silent_p.S388S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	388						CUL4 RING ubiquitin ligase complex	protein binding										GACGCTTTTCCAGCCGGGAAG	0.517000														60			53		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332514	43332514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43332514C>T	uc002yzw.3	-	6	1122	c.880G>A	c.(880-882)Gat>Aat	p.D294N	C2CD2_uc002yzu.3_Missense_Mutation_p.D126N|C2CD2_uc002yzv.3_Missense_Mutation_p.D139N|C2CD2_uc002yzx.1_Missense_Mutation_p.D139N	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	294	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGAACAGGATCGTTCAGCTGC	0.438000														6			9		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51453182	51453182	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:51453182G>A	uc002pue.3	-	3	482	c.264C>T	c.(262-264)ccC>ccT	p.P88P	KLK5_uc002puf.3_Silent_p.P88P|KLK5_uc002pug.3_Silent_p.P88P	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	88	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGAGCTGGTTGGGCCTTAGCA	0.632000														27			11		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448865	99448865	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:99448865C>T	uc002szf.1	-	4	780	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	162										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGGGGGCTCCTGGGCAGCC	0.617000														37			56		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049078	29049078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:29049078G>A	uc002kws.3	+	11	1772	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGCCCAGGAACAGATACC	0.473000														76			61		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38356705	38356705	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:38356705C>T	uc003tge.1	-	2	656	c.279G>A	c.(277-279)agG>agA	p.R93R	ARPP21_uc003tfv.3_Intron|ARPP21_uc003tfz.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTTCAGGTATCCTATCCACCT	0.483000														6			25		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73336202	73336202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:73336202G>A	uc001vix.4	-	16	2575	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	DIS3_uc001viy.4_Missense_Mutation_p.P704L|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	734					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GTTTAGATATGGAAAAGTAGG	0.398000										Multiple Myeloma(4;0.011)				64			30		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20009888	20009888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:20009888G>A	uc001bcn.3	-	15	1792	c.1550C>T	c.(1549-1551)gCc>gTc	p.A517V	TMCO4_uc001bco.1_Missense_Mutation_p.A517V|TMCO4_uc001bcp.1_Missense_Mutation_p.A477V	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	517						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATGCCCACGGCCTTCAGGAT	0.677000														2			19		0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70178911	70178911	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:70178911G>A	uc021pru.1	-	18	3105	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	DNA2_uc021prt.1_Silent_p.I1035I|DNA2_uc021prv.1_Silent_p.I206I|DNA2_uc001jog.2_Silent_p.I711I|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	949					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCATTGATGATCTTTAATT	0.358000														21			12		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49061780	49061780	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49061780G>A	uc004dnb.3	-	47	5813	c.5751C>T	c.(5749-5751)ttC>ttT	p.F1917F	CACNA1F_uc010nip.3_Silent_p.F1906F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1917					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAGGGCCACGAAACGTGGGT	0.602000														2			11		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90036050	90036050	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:90036050G>A	uc001tbh.3	-	1	472	c.291C>T	c.(289-291)acC>acT	p.T97T	ATP2B1_uc001tbg.3_Silent_p.T97T	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	97					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTGAAGAAAGGTTTTTGGCT	0.333000														129			88		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47685067	47685067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:47685067G>A	uc003oyz.1	+	8	2185	c.2185G>A	c.(2185-2187)Ggg>Agg	p.G729R	GPR115_uc003oza.1_Missense_Mutation_p.G672R|GPR115_uc003ozb.1_Missense_Mutation_p.G672R	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	672					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCACTGAAGGGGAAATCGAG	0.468000														185			68		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582494	82582494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:82582494G>A	uc003uhx.2	-	4	8064	c.7775C>T	c.(7774-7776)cCa>cTa	p.P2592L	PCLO_uc003uhv.2_Missense_Mutation_p.P2592L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2523					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATCTGTTGGAGTCCCTGG	0.448000														40			118		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529138	138529138	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:138529138G>A	uc011kql.2	-	17	5425	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	KIAA1549_uc011kqi.2_Silent_p.A576A|KIAA1549_uc011kqk.2_Silent_p.A576A|KIAA1549_uc011kqj.2_Silent_p.A1792A	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1792						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCAAATGGGGCTTCGGCGG	0.617000			O	BRAF	pilocytic astrocytoma									10			23		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930760	177930760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:177930760G>A	uc001glj.1	-	10	1618	c.752C>T	c.(751-753)cCc>cTc	p.P251L	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001glh.1_5'Flank|SEC16B_uc001gli.1_Missense_Mutation_p.P251L|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.P251L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	251					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGAAGCTGGGGGATCATCCCG	0.542000														36			30		0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650624	35650624	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:35650624G>A	uc003zxe.1	-	1	208	c.111C>T	c.(109-111)tcC>tcT	p.S37S	SIT1_uc022bgl.1_5'UTR	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	37					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGGGTTATGGAGGGGATTC	0.652000														3			55		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372684	126372684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:126372684G>A	uc003ifj.4	+	8	10513	c.10513G>A	c.(10513-10515)Gat>Aat	p.D3505N	FAT4_uc011cgp.2_Missense_Mutation_p.D1803N|FAT4_uc003ifi.1_Missense_Mutation_p.D983N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3505	Cadherin 33.				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						AGATATAAATGATAACGGGCC	0.488000														68			43		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548411	52548411	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52548411G>A	uc001vfw.2	-	1	1102	c.945C>T	c.(943-945)atC>atT	p.I315I	ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Silent_p.I315I|ATP7B_uc001vfx.2_Silent_p.I315I|ATP7B_uc010tgt.1_Silent_p.I315I|ATP7B_uc010tgu.1_Silent_p.I315I|ATP7B_uc010tgv.1_Silent_p.I315I|ATP7B_uc010tgw.1_Silent_p.I283I	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	315	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GAAGTGCCTCGATAGCCCTCT	0.507000									Wilson disease					173			65		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643198	1643198	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:1643198A>C	uc009ycy.1	-	0	171	c.84T>G	c.(82-84)tgT>tgG	p.C28W	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	121						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcccccacagccggagc	0.697000														4			40		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665653	153665653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:153665653C>T	uc001fcs.4	+	20	3524	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	NPR1_uc010pdz.2_Nonsense_Mutation_p.R781*|NPR1_uc010pea.2_Nonsense_Mutation_p.R513*	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1035					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTGGAGCTTCGAGGGGATGT	0.562000														68			38		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65270363	65270363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:65270363C>T	uc001xht.3	-	2	487	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SPTB_uc001xhr.3_Missense_Mutation_p.V146I|SPTB_uc001xhs.3_Missense_Mutation_p.V146I|SPTB_uc001xhu.3_Missense_Mutation_p.V146I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	146	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGCCCAGGACCAGGCGGTGG	0.597000														36			26		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44054260	44054260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:44054260G>A	uc002xoh.2	+	11	1621	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	PIGT_uc010zwz.2_Missense_Mutation_p.E249K|PIGT_uc010zww.2_Missense_Mutation_p.E455K|PIGT_uc010zwy.2_Missense_Mutation_p.E409K|PIGT_uc002xoj.2_Missense_Mutation_p.E444K|PIGT_uc010zwu.2_Missense_Mutation_p.E249K|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Missense_Mutation_p.E249K|PIGT_uc010zwx.2_Missense_Mutation_p.E346K|PIGT_uc010zxa.2_Missense_Mutation_p.E349K|PIGT_uc002xol.1_Missense_Mutation_p.E300K|PIGT_uc010zxb.1_Missense_Mutation_p.E187K	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	511					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCTCTACACGGAGCCGCTGCT	0.597000														30			9		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:71619234C>T	uc003xyq.3	+	3	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Silent_p.F113F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	113						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358000														21			36		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786616	164786616	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164786616A>G	uc003fei.3	-	4	440	c.377T>C	c.(376-378)gTt>gCt	p.V126A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	126	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGGCTTCAACTCCTTAAAG	0.318000										HNSCC(35;0.089)				42			25		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950810	127950810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:127950810C>T	uc002tod.2	-	6	993	c.862G>A	c.(862-864)Gag>Aag	p.E288K	CYP27C1_uc021vnn.1_Missense_Mutation_p.E288K	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	288						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGCCGGAACTCCTTGGCCCGA	0.552000														62			27		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46747431	46747431	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:46747431G>A	uc001ndf.4	+	6	625	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	194				AM -> MV (in Ref. 9; AA sequence).	STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCACTGTAGCGATGACTCCAC	0.617000														8			63		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1525051	1525051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:1525051G>A	uc003skn.2	-	22	3132	c.3031C>T	c.(3031-3033)Ccc>Tcc	p.P1011S	INTS1_uc003skp.1_Missense_Mutation_p.P358S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1011					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCATGGGGGGCTCCTTCTCC	0.657000														7			26		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000800	41000800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:41000800G>A	uc003jmj.4	-	37	4820	c.4330C>T	c.(4330-4332)Ccc>Tcc	p.P1444S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P999S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1444							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTGGGGTTGGGATCCCAAAGG	0.483000														12			7		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398303	23398303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:23398303G>A	uc004dal.4	+	1	955	c.947G>A	c.(946-948)gGg>gAg	p.G316E	PTCHD1_uc010nfu.2_Missense_Mutation_p.G316E	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	316	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACTGCAGCCGGGATCATCAAT	0.522000														8			58		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62671279	62671279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:62671279C>T	uc001jli.3	-	3	460	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RHOBTB1_uc009xpe.2_Missense_Mutation_p.E8K|RHOBTB1_uc001jlh.3_Missense_Mutation_p.E8K|RHOBTB1_uc001jlj.3_Missense_Mutation_p.E8K|RHOBTB1_uc001jlk.3_Missense_Mutation_p.E8K|RHOBTB1_uc001jlm.3_Missense_Mutation_p.E8K	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	8	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTGGGTCTTTCGTAGTCCATG	0.498000														125			92		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619403	144619403	+	Missense_Mutation	SNP	A	G	G	rs4067646		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:144619403A>G	uc009wig.1	+	5	738	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	184										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGTGCAGAAATCATCTGC	0.413000														173			5		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953100	196953100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:196953100C>T	uc001gts.4	+	2	391	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	88	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGAATGTGTTCCTTTCCTTTT	0.308000														22			25		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307396	46307396	+	Silent	SNP	C	T	T	rs76939117		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:46307396C>T	uc003cpl.2	+	2	1877	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CCR3_uc003cpg.2_Silent_p.F249F|CCR3_uc003cpk.2_Silent_p.F270F|CCR3_uc003cpi.2_Silent_p.F249F|CCR3_uc010hjb.2_Silent_p.F267F|CCR3_uc003cpj.2_Silent_p.F249F|CCR3_uc021wwz.1_Silent_p.F249F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	249					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGTGTTTTTCATTTTCTGGA	0.458000														30			46		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890731	31890731	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:31890731A>G	uc002wyw.1	+	10	1152	c.991A>G	c.(991-993)Aag>Gag	p.K331E	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	331						extracellular space	lipid binding										GGCTGCAGATAAGCTGGGATC	0.577000														30			31		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38899616	38899616	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:38899616C>T	uc021yzh.1	+	75	11413	c.11304C>T	c.(11302-11304)atC>atT	p.I3768I	DNAH8_uc003ooe.2_Silent_p.I3551I|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATGTGATATCATGGATACAT	0.338000														276			57		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34110818	34110818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:34110818G>A	uc001zhi.3	+	75	10709	c.10639G>A	c.(10639-10641)Gaa>Aaa	p.E3547K	RYR3_uc010bar.3_Missense_Mutation_p.E3542K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3547					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGAGACAGAAAAACAACC	0.488000														18			14		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952603	54952603	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:54952603G>A	uc003dhl.3	-	2	1055	c.921C>T	c.(919-921)gcC>gcT	p.A307A	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	307						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGCCATAGATGGCAGCTGCCA	0.542000														49			79		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7707833	7707833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:7707833C>T	uc003jdz.1	+	8	1350	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	ADCY2_uc011cmo.1_Missense_Mutation_p.S248F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	428					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTCACATTTCTTCTGTCACC	0.388000														21			21		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958734	111958734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:111958734C>T	uc003dyu.3	-	11	1621	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.D419N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	467					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATGTTCCAATCAGCATTAGCA	0.333000														16			9		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216271100	216271100	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:216271100C>T	uc002vfa.3	-	18	3113	c.2847G>A	c.(2845-2847)gaG>gaA	p.E949E	FN1_uc002vfc.3_Silent_p.E949E|FN1_uc002vfe.3_Silent_p.E949E|FN1_uc002vff.3_Silent_p.E949E|FN1_uc002vfg.3_Silent_p.E949E|FN1_uc002vfh.3_Silent_p.E949E|FN1_uc002vfi.3_Silent_p.E949E|FN1_uc002vfj.3_Silent_p.E949E|FN1_uc002vfb.3_Silent_p.E949E	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	949	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGCCCGTGCTCGCCAGGCA	0.582000														20			29		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013459	6013459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:6013459G>A	uc003zjr.3	-	0	2182	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	RANBP6_uc011lmf.2_Missense_Mutation_p.P365S|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	717					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTCAGTAAAGGAACCATCAGC	0.423000														7			72		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193180586	193180586	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:193180586C>T	uc003ftd.3	-	12	1596	c.1488G>A	c.(1486-1488)ttG>ttA	p.L496L	ATP13A4_uc003fte.1_Silent_p.L496L|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.L202L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	496					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G495S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCCAGAGGTCCAAGCCGTCCC	0.478000														51			18		0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1576408	1576408	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:1576408C>T	uc011cmd.1	-	1		c.321G>A			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CCACCAGGTCCGTGTTCCAGA	0.637000														10			3		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566244	169566244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169566244G>A	uc001ggi.4	-	10	1941	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	SELP_uc001ggh.3_Missense_Mutation_p.P461S|SELP_uc009wvr.3_Missense_Mutation_p.P626S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	626	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P626T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTTGGTGGAGTAGCTGAC	0.398000														70			26		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045715	116045715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:116045715G>A	uc001lbl.1	+	10	1336	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	VWA2_uc001lbk.1_Missense_Mutation_p.E339K|VWA2_uc009xyf.1_Missense_Mutation_p.E35K	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	339						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGAGCCTGGAATGCAGGGT	0.627000														33			28		0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960810	29960810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:29960810C>T	uc002wvr.3	+	1	242	c.209C>T	c.(208-210)cCc>cTc	p.P70L		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	70					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCGACATCTCCCACACCCTTG	0.423000														35			44		0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49455970	49455970	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49455970C>T	uc004dom.3	-	3	307	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	58					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CAGCTTCAGGCTCCTGCCCTT	0.393000														5			12		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109861769	109861769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:109861769G>A	uc021xqo.1	-	8	654	c.598C>T	c.(598-600)Cct>Tct	p.P200S	COL25A1_uc003hze.1_Missense_Mutation_p.P200S|COL25A1_uc021xqp.1_Missense_Mutation_p.P200S|COL25A1_uc003hzg.3_Missense_Mutation_p.P200S|COL25A1_uc003hzd.3_Intron|COL25A1_uc003hzf.3_5'UTR	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	200	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGAGGGCCAGGGGGTCCTGGA	0.567000														54			28		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206730	104206730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:104206730G>A	uc001yof.1	-	11	2306	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Missense_Mutation_p.L542F	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	675	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATGGGCGTGAGCTTGGTGGGG	0.657000														83			51		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014474	114014474	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:114014474C>T	uc003ebg.2	+	1	899	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	48	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCACCTCTCCTCCACCACGG	0.517000														95			61		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167631594	167631594	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:167631594C>T	uc010jjd.3	+	18	3765	c.3765C>T	c.(3763-3765)ccC>ccT	p.P1255P	ODZ2_uc003lzr.4_Silent_p.P1032P|ODZ2_uc003lzt.4_Silent_p.P628P|ODZ2_uc010jje.3_Silent_p.P526P	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCATCTTTCCCTCTCGAAATG	0.517000														28			18		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568699	20568699	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:20568699T>C	uc001iqg.1	+	13	2178	c.1541T>C	c.(1540-1542)gTt>gCt	p.V514A	PLXDC2_uc001iqh.1_Missense_Mutation_p.V465A|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	514						integral to membrane		p.E513D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATGCTGAAGTTGAACCAGTT	0.418000														29			19		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														37			7		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271121	97271121	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97271121G>A	uc002swn.4	-	14	2015	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	KANSL3_uc002swh.4_Silent_p.S511S|KANSL3_uc002swi.4_Silent_p.S550S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Silent_p.S536S|KANSL3_uc010fhz.3_Silent_p.S443S|KANSL3_uc002swl.4_Silent_p.S524S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Silent_p.S417S|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Silent_p.S524S	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	649																	GGGAGATAAGGGACACCTTGA	0.527000														36			51		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88508884	88508884	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:88508884G>A	uc001tar.3	-	18	2244	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	CEP290_uc001tat.3_Nonsense_Mutation_p.Q427*|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	634					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTATTCTGAAATTTGGCT	0.289000														5			3		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105286	65105286	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:65105286G>A	uc010wqk.2	-	28	4625	c.4438C>T	c.(4438-4440)Ctg>Ttg	p.L1480L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.L1479L|HELZ_uc010der.3_Silent_p.L23L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGCTATTCAGATGTGAAGGA	0.488000														40			30		0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643093	109643094	+	RNA	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:109643093_109643094CC>TT	uc001dwo.1	+	0		c.279_280CC>TT								Homo sapiens small Cajal body-specific RNA 2 (SCARNA2), guide RNA.																		GCAGCGAGGCCCCTTAGGCGGC	0.673000														0			13		0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121612602	121612602	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:121612602G>A	uc001ler.2	-	5	832	c.534C>T	c.(532-534)ccC>ccT	p.P178P	MCMBP_uc001leq.1_Silent_p.P5P|MCMBP_uc001les.1_Silent_p.P5P|MCMBP_uc001let.1_Silent_p.P5P	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	178					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	p.P178P(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGCTTATTGGGCTGTAGGT	0.458000														119			75		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24655610	24655610	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:24655610G>A	uc001wmv.1	-	9	1909	c.888C>T	c.(886-888)ttC>ttT	p.F296F	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.F160F|IPO4_uc001wmy.1_Silent_p.F160F|IPO4_uc001wmz.2_Silent_p.F296F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	296					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCACAATGGGGAAAAGGGTGT	0.562000														78			66		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039417	20039417	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:20039417G>A	uc001umd.3	-	9	865	c.654C>T	c.(652-654)gaC>gaT	p.D218D	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.D107D|TPTE2_uc001ume.3_Silent_p.D141D|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	218	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D141D(1)|p.D218D(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGAGGTCTAGGTCAAATCCAT	0.313000														7			60		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125716406	125716406	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:125716406G>A	uc003yrl.2	-	1	633	c.99C>T	c.(97-99)ttC>ttT	p.F33F	MTSS1_uc003yrj.2_Silent_p.F33F|MTSS1_uc003yrk.2_Silent_p.F33F	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	33	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTGTTTATGAAATCTTCCC	0.448000														68			31		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338734	103338734	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:103338734T>G	uc001vpj.3	-	3	448	c.442A>C	c.(442-444)Aac>Cac	p.N148H		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	148							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TATTGAAGGTTTCCCAGGACA	0.418000														55			28		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409674	159409674	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:159409674C>T	uc010piv.2	+	0	163	c.126C>T	c.(124-126)ttC>ttT	p.F42F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	42					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGGCGTGTTCCTTGCACTAT	0.423000														103			94		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942794	11942794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11942794C>T	uc002msp.1	+	3	959	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTTCATAGTCCCAGATCCTAT	0.393000														15			26		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607000														102			41		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109332694	109332694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:109332694C>T	uc010sxh.1	-	8	816	c.644G>A	c.(643-645)gGg>gAg	p.G215E		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	269						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TTCCTGGTTCCCTGACAGCAC	0.557000														103			50		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612116	43612116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:43612116G>A	uc001jal.3	+	11	2411	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	RET_uc001jak.1_Missense_Mutation_p.A741T|RET_uc010qez.1_Missense_Mutation_p.A487T	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	741	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGGTCAAGGCAACGGCCTT	0.532000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					93			68		0	0	1	0	0
HN1	51155	broad.mit.edu	37	17	73144668	73144668	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73144668A>G	uc002jnb.1	-	1	438	c.155T>C	c.(154-156)tTt>tCt	p.F52S	HN1_uc002jmz.1_Missense_Mutation_p.F6S|HN1_uc002jna.1_Missense_Mutation_p.F52S	NM_001002032	NP_001002032	Q9UK76	HN1_HUMAN	Homo sapiens hematological and neurological expressed 1 (HN1), transcript variant 2, mRNA.	52						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					AGGTGTCCCAAAGATATTAGA	0.458000														26			11		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4622657	4622657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:4622657G>A	uc010vsg.2	+	10	1150	c.922G>A	c.(922-924)Ggt>Agt	p.G308S	ARRB2_uc002fyj.3_Missense_Mutation_p.G287S|ARRB2_uc002fyk.3_Missense_Mutation_p.G272S|ARRB2_uc002fyl.3_Missense_Mutation_p.G287S|ARRB2_uc002fym.3_Missense_Mutation_p.G272S|ARRB2_uc002fyn.3_Missense_Mutation_p.G95S	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	287	Interaction with TRAF6.				G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGAGAAGCGGGGTCTCGCCCT	0.627000														34			31		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26690042	26690042	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:26690042G>A	uc002rhk.3	-	34	4414	c.4287C>T	c.(4285-4287)ttC>ttT	p.F1429F	OTOF_uc010yla.2_Silent_p.F159F|OTOF_uc002rhh.3_Silent_p.F662F|OTOF_uc002rhi.3_Silent_p.F739F|OTOF_uc002rhj.3_Silent_p.F662F	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1429					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCAAGTTGAAAGTGTGCA	0.597000														40			50		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17999160	17999160	+	Missense_Mutation	SNP	G	A	A	rs145168559		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17999160G>A	uc002nhr.4	+	12	1894	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	516					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GACGCCAGCCGACCCGCCTTA	0.577000														73			37		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948633	7948633	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:7948633C>T	uc002gju.3	+	6	1043	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ALOX15B_uc002gjv.3_Silent_p.F309F|ALOX15B_uc002gjw.3_Silent_p.F309F|ALOX15B_uc010vun.2_Silent_p.F309F|ALOX15B_uc010cnp.3_Silent_p.F115F	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	309	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGCCTCAGTTCTCTGCGGCCC	0.602000														31			34		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288908	17288908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:17288908G>A	uc002zlv.3	-	1	154	c.56C>T	c.(55-57)tCg>tTg	p.S19L	XKR3_uc011agf.2_Missense_Mutation_p.S19L	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	19						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTCTTCTTTCGAAGATGAAAC	0.428000														6			92		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737516	247737516	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:247737516C>T	uc001idf.3	+	4	387	c.240C>T	c.(238-240)tcC>tcT	p.S80S	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	80										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATCAGAGATCCTCCCTGAGCT	0.438000														42			46		0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598418	11598418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11598418G>A	uc002mrz.2	-	3	997	c.860C>T	c.(859-861)gCg>gTg	p.A287V		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A287V(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCTGGGGCCCGCACCCACTTG	0.687000														90			4		0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052204	68052204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:68052204C>T	uc001str.4	+	2	1919	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	DYRK2_uc001sts.4_Missense_Mutation_p.P433L|DYRK2_uc021raa.1_Missense_Mutation_p.P433L	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	506	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGTGATGATCCCCTTTTCCTT	0.612000														45			33		0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39870640	39870640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39870640C>T	uc002olb.3	+	11	2600	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	SAMD4B_uc002ola.3_Missense_Mutation_p.S522F	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	522							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGCTGCTATCCTGGAAACAG	0.572000														39			20		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773711	35773711	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:35773711C>T	uc003olg.1	+	0	641	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	88						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTTCTCCTCCATCCCCTCTA	0.557000														279			87		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77397781	77397781	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77397781A>T	uc002ffc.4	-	6	1392	c.973_splice	c.e6-1	p.V325_splice	ADAMTS18_uc010chc.1_Splice_Site|ADAMTS18_uc002ffe.1_Splice_Site_p.V21_splice|ADAMTS18_uc010vni.1_Splice_Site	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	325	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TAGGCCAGAAACCTGTTGGAA	0.373000														28			7		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699262	48699262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:48699262G>A	uc003cuf.1	-	2	1016	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	CELSR3_uc003cul.3_Missense_Mutation_p.P269L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	269	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGCTCGGGAGCTGTCCG	0.741000														44			28		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928743	94928743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:94928743C>T	uc002btj.3	+	12	1842	c.1777C>T	c.(1777-1779)Ccc>Tcc	p.P593S	MCTP2_uc002bti.2_Missense_Mutation_p.P593S|MCTP2_uc010boj.3_Missense_Mutation_p.P322S|MCTP2_uc010bok.3_Missense_Mutation_p.P593S|MCTP2_uc002btk.4_Missense_Mutation_p.P181S|MCTP2_uc002btl.3_Missense_Mutation_p.P181S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTTGCCATTCCCTTGCTGTC	0.353000														42			35		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405415	47405415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:47405415C>T	uc003gxh.3	+	5	999	c.625C>T	c.(625-627)Cct>Tct	p.P209S	GABRB1_uc011bze.2_Missense_Mutation_p.P139S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATCGAACTTCCTCAATTTTC	0.413000														21			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135827	141135827	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141135827G>A	uc002tvj.1	-	67	11532	c.10560C>T	c.(10558-10560)ttC>ttT	p.F3520F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3520	LDL-receptor class A 26.				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)		TGGCACAGAGGAAATCTTTCA	0.378000										TSP Lung(27;0.18)				34			35		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940570	144940570	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:144940570C>T	uc003zaa.1	-	0	6865	c.6852G>A	c.(6850-6852)gaG>gaA	p.E2284E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2284						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACGGCCTCCTCCACCGACA	0.746000														122			8		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961048	143961048	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:143961048T>C	uc010mey.3	-	0	189	c.182A>G	c.(181-183)tAt>tGt	p.Y61C	CYP11B1_uc003yxi.3_Missense_Mutation_p.Y61C|CYP11B1_uc003yxj.3_Missense_Mutation_p.Y61C	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGGTCCTCATAACCCTGCTC	0.637000									Familial Hyperaldosteronism type I					64			25		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086907	55086907	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:55086907C>T	uc010ern.3	+	5	1309	c.840C>T	c.(838-840)ttC>ttT	p.F280F	LILRA1_uc002qgg.4_Silent_p.F280F|LILRA1_uc002qgf.3_Silent_p.F280F|LILRA1_uc010yfe.1_Silent_p.F280F|LILRA1_uc010yff.1_Silent_p.F268F|LILRA1_uc010ero.3_Silent_p.F268F|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	282	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCCAACTTCACCCTGGGCC	0.627000														39			57		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080652	42080652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:42080652G>A	uc002yyq.1	-	1	541	c.89C>T	c.(88-90)tCt>tTt	p.S30F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	30					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCTTGCAGAGATGCATTGAC	0.527000														74			102		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633640	69633640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:69633640G>A	uc010lyz.3	+	9	1663	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	C8orf34_uc003xyb.3_Missense_Mutation_p.E347K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	372					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGAGGGTGACGAATTTGAGAA	0.279000														19			9		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														37			15		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442622	116442622	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:116442622C>T	uc003pwm.3	-	2	753	c.657G>A	c.(655-657)gtG>gtA	p.V219V	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	219	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CTCTTTTTCCCACTCCAGGAG	0.572000														3			28		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328230	3328230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:3328230C>T	uc001akf.3	+	8	1551	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	PRDM16_uc001ake.3_Missense_Mutation_p.P490L|PRDM16_uc009vlh.3_Missense_Mutation_p.P191L|PRDM16_uc001akc.3_Missense_Mutation_p.P490L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	490	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGTACTTTCCCTCCAGGCCG	0.667000			T	EVI1	"""MDS, AML"""									7			79		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2122932	2122932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2122932C>T	uc002con.3	+	20	2409	c.2303C>T	c.(2302-2304)cCa>cTa	p.P768L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.P768L|TSC2_uc002coo.3_Missense_Mutation_p.P768L|TSC2_uc010uvv.2_Missense_Mutation_p.P731L|TSC2_uc010uvw.2_Missense_Mutation_p.P719L|TSC2_uc002cop.3_Missense_Mutation_p.P568L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	768					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCGTGGTTCCAGTGCTGACA	0.557000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					61			35		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41427706	41427706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:41427706C>T	uc002yyq.1	-	28	5433	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1661					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1661N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGGTATGTCGATGTGCATT	0.468000														143			78		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390018	158390018	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:158390018C>T	uc010pii.2	-	0	639	c.639G>A	c.(637-639)ttG>ttA	p.L213L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213F(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACACCAAGATCAACAATAAGG	0.448000														46			27		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527785	207527785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207527785G>A	uc002vbr.1	-	10	1592	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	492						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AACCATTTTGGGGATGTCCTG	0.502000														44			36		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134226076	134226076	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:134226076G>C	uc003eqo.1	+	3	619	c.170G>C	c.(169-171)cGt>cCt	p.R57P	CEP63_uc003eql.1_Missense_Mutation_p.R57P|CEP63_uc003eqm.3_Missense_Mutation_p.R57P|CEP63_uc003eqn.1_Missense_Mutation_p.R57P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	57					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.R57C(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368000														37			20		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51456309	51456309	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:51456309G>A	uc003dbe.2	-	14	3284	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	VPRBP_uc021wys.1_Silent_p.F1032F|VPRBP_uc003dbf.1_Silent_p.F362F	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1086					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGCTTCCCGGAACACTGAAA	0.483000														16			8		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256482	52256482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:52256482C>T	uc003ddb.3	-	4	2351	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	TLR9_uc003dda.2_Missense_Mutation_p.G617E	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	617					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATAGAGGTCTCCCTCGGCCCA	0.607000														34			16		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212314	62212314	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:62212314G>A	uc002agz.3	-	56	7520	c.7429C>T	c.(7429-7431)Cta>Tta	p.L2477L	VPS13C_uc002aha.3_Silent_p.L2434L|VPS13C_uc002ahb.2_Silent_p.L2477L|VPS13C_uc002ahc.2_Silent_p.L2434L|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2477					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATATAGATAGGTTCCCTTGA	0.433000														34			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263725	140263725	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140263725G>A	uc003lif.2	+	0	1872	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.V624V|PCDHAC2_uc003lid.3_Silent_p.V624V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	635	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCGCGTGGGGCTGTACA	0.682000														57			39		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294455	114294455	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:114294455C>T	uc003ibe.4	+	44	11809	c.11709C>T	c.(11707-11709)atC>atT	p.I3903I	ANK2_uc003ibd.4_Silent_p.I1809I|ANK2_uc003ibf.4_Silent_p.I1818I|ANK2_uc011cgc.2_Silent_p.I994I|ANK2_uc003ibg.4_Silent_p.I833I|ANK2_uc003ibh.4_Silent_p.I523I|ANK2_uc010ims.3_5'UTR|ANK2_uc010imr.3_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3870					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTAGGAAAATCATTAGGCGGT	0.383000														31			20		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072173	41072173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:41072173G>A	uc002ony.3	+	29	6330	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	SPTBN4_uc002onz.3_Missense_Mutation_p.E2082K|SPTBN4_uc010egx.3_Missense_Mutation_p.E825K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2082					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGTGGATGAGGTGGAGCA	0.667000														5			3		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80639989	80639989	+	Missense_Mutation	SNP	G	A	A	rs113234186		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:80639989G>A	uc003khl.4	-	8	1025	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	324					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R324H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTGCCTAGGCGAATTCGCTTG	0.368000														18			16		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166905439	166905439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:166905439C>T	uc002udo.4	-	8	1212	c.985G>A	c.(985-987)Ggt>Agt	p.G329S	SCN1A_uc010fpk.3_Missense_Mutation_p.G329S|SCN1A_uc021vsb.1_Missense_Mutation_p.G329S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	329						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTAAAAAACCCTCCAGGAAA	0.338000														22			14		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7016246	7016246	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:7016246G>A	uc011bwg.2	+	11	1798	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	TBC1D14_uc003gjs.4_Silent_p.K573K|TBC1D14_uc010idh.3_Silent_p.K293K|TBC1D14_uc011bwh.2_Silent_p.K220K|TBC1D14_uc003gju.4_Silent_p.K64K	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	573	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CGCATTTCAAGAAGAACAACC	0.358000														14			3		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309898	45309898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:45309898G>A	uc003bfn.3	-	4	786	c.635C>T	c.(634-636)cCc>cTc	p.P212L	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	212							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		aggggtgaggggaagagagga	0.642000														2			53		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020427	69020427	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:69020427C>T	uc003xxv.1	+	23	2826	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	PREX2_uc011lez.1_Silent_p.F868F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	933					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGTGATTTCTGCCCTACCA	0.428000														18			24		0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234618	26234618	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26234618G>A	uc003nhd.3	-	0	599	c.544C>T	c.(544-546)Cag>Tag	p.Q182*		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	182					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q182*(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTTTGGCTGAGGTGTTTTC	0.502000														274			42		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258413	25258413	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:25258413G>A	uc002dod.4	-	4	1511	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	ZKSCAN2_uc010vcl.2_Silent_p.P164P|ZKSCAN2_uc002doe.2_Silent_p.P368P	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGCTATTTCGGGGACAGGCCT	0.458000														54			49		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056762	120056762	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:120056762C>T	uc001ehv.1	+	3	761	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	206					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.L206L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AAACGAGGCCCTGAACAACAA	0.502000														7			51		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67791147	67791147	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:67791147C>T	uc003xwz.4	+	6	873	c.702C>T	c.(700-702)ttC>ttT	p.F234F	MCMDC2_uc003xwv.3_Silent_p.F234F|MCMDC2_uc011lev.2_Silent_p.F234F|MCMDC2_uc011lew.2_Silent_p.F165F|MCMDC2_uc011lex.2_5'UTR|MCMDC2_uc003xwy.4_Silent_p.F234F	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	234					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTACAATTTTCCTAAGAGGTA	0.353000														34			8		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														48			6		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750217	233750217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:233750217G>A	uc010pxo.1	+	0	468	c.300G>A	c.(298-300)tgG>tgA	p.W100*		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	100						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CGGGCAACTGGAACTGGGACT	0.682000														19			14		0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15769734	15769734	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:15769734C>T	uc002rce.3	+	23	2172	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	DDX1_uc021vee.1_Silent_p.Y547Y	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	628	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGTTTGGTACCATGTATGTA	0.358000														20			13		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323969	31323969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:31323969C>T	uc010dmg.1	+	11	4212	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	ASXL3_uc002kxq.2_Missense_Mutation_p.S1093F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCACTGTATCCATGGGTACC	0.507000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			61		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31744340	31744340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:31744340G>A	uc011dog.2	-	1	455	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	73						extracellular region											TCCTCAAGACGAAGAGGGGGG	0.632000														361			146		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641854	129641854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:129641854C>T	uc022bnn.1	+	0	164	c.164C>T	c.(163-165)cCa>cTa	p.P55L	ZBTB34_uc004bqm.4_Missense_Mutation_p.P55L	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	55	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCCAGCTCCCCATATTTCCGG	0.463000														10			105		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120603	193120603	+	Silent	SNP	G	A	A	rs117452828	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:193120603G>A	uc003ftd.3	-	29	3537	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1143					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACTGATAGCCGAAACATCTTT	0.443000														38			12		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501287	107501287	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:107501287C>T	uc010rvs.2	+	3	567	c.163_splice	c.e3+1	p.E55_splice	ELMOD1_uc001pjm.3_Splice_Site_p.E55_splice|ELMOD1_uc010rvt.2_Splice_Site_p.E49_splice	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	55					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCATGAAAATCGGTAAGCCTG	0.408000														0			7		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4517588	4517588	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:4517588C>T	uc002mar.1	-	0	129	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	43						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTTGGGCAGCCTCGGCAGCAG	0.706000														13			14		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361686	105361686	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:105361686C>T	uc003ylx.1	+	1	955	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	302					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CCATACTTATCCATCTCTGCA	0.468000														184			95		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553816	140553816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:140553816C>T	uc003lit.3	+	0	1574	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	467	Cadherin 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)			AACAGCCCCGCCCTGCCCATC	0.627000														69			45		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926269	1926269	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:1926269G>A	uc002qxe.3	-	9	2099	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	MYT1L_uc002qxd.3_Silent_p.F424F|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	424					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)		TGGTCATGTCGAACACCTCTT	0.567000														37			62		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:220315224C>T	uc001hmc.3	+	19	2598	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000														105			37		0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800131	152800131	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152800131C>T	uc010pdw.2	+	0	183	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	61	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGGCTGCAGCTCTGGGGGAG	0.677000														56			47		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874588	47874588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:47874588C>T	uc003tny.2	-	38	6138	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2035					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTCTGTGCTCCTCCTCTAAG	0.537000														71			17		0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53646604	53646604	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53646604C>T	uc001sch.2	+	1	453	c.306C>T	c.(304-306)gtC>gtT	p.V102V	MFSD5_uc001sci.2_5'UTR|MFSD5_uc021qye.1_5'Flank	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	0					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTCCCAGGTCGTCCGGGGGC	0.627000														32			19		0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012310	46012310	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46012310A>G	uc002zfm.3	-	0	77	c.56T>C	c.(55-57)gTc>gCc	p.V19A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	19						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGAAGGCAGACGCGGCTGCC	0.672000														58			4		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603381	52603381	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:52603381C>T	uc001vgb.3	+	1	1003	c.441C>T	c.(439-441)atC>atT	p.I147I	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Silent_p.I147I	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	147					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ACCCTATCATCCTGAAGAACC	0.493000														78			31		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34100926	34100926	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:34100926G>A	uc001bxm.1	-	30	5151	c.4974C>T	c.(4972-4974)ccC>ccT	p.P1658P	CSMD2_uc001bxn.1_Silent_p.P1618P|CSMD2_uc001bxo.1_Silent_p.P531P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1618	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCACAGGGGGCTGAAA	0.552000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			12		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864276	128864276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:128864276G>A	uc003kvb.1	+	5	1216	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	406	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAACATGAAGAATTTGG	0.363000														21			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058153	9058153	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9058153G>A	uc002mkp.3	-	2	29497	c.29293C>T	c.(29293-29295)Ctg>Ttg	p.L9765L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9767	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTTCACCAGGCCTGGGAGG	0.488000														24			28		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461486	106461486	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:106461486G>A	uc001tlj.1	-	6	2460	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	360							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCTCTAGCATGACCTCAGAGG	0.552000														31			25		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22609910	22609910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:22609910G>A	uc010sit.2	-	25	3106	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	KIAA0528_uc010sir.2_Missense_Mutation_p.R763W|KIAA0528_uc010sis.2_Missense_Mutation_p.R958W|KIAA0528_uc001rfq.3_Missense_Mutation_p.R907W|KIAA0528_uc010siu.2_Missense_Mutation_p.R958W|KIAA0528_uc001rfr.3_Missense_Mutation_p.R949W	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	907							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTACCTCCCGAAGAGAAGTA	0.274000														11			13		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77896788	77896788	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77896788G>A	uc002ffg.1	+	4	819	c.722_splice	c.e4+1	p.R241_splice		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	241							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAGTTAAAAGGTAAGATGTTT	0.408000														27			34		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001376	103001376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103001376G>A	uc002tbw.4	+	6	877	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	IL18R1_uc010ywd.2_Missense_Mutation_p.E88K|IL18R1_uc010fiy.3_Missense_Mutation_p.E243K|IL18R1_uc010ywc.2_Missense_Mutation_p.E243K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	243	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTGCTGAATGAAGAGGATGT	0.333000														59			29		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043690	77043690	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:77043690G>A	uc002jwt.3	+	2	742	c.660G>A	c.(658-660)agG>agA	p.R220R	C1QTNF1_uc002jwp.3_Silent_p.R122R|C1QTNF1_uc002jwq.3_Silent_p.R40R|C1QTNF1_uc002jwr.4_Silent_p.R132R|C1QTNF1_uc002jws.3_Silent_p.R122R	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	122	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CAGGGGCCAGGGGCCACACTG	0.627000														72			47		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022396	18022396	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:18022396G>A	uc021trm.1	+	0	501	c.282G>A	c.(280-282)aaG>aaA	p.K94K	MYO15A_uc021trl.1_Silent_p.K94K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	94	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCATGGGCAAGAAGAAGCGGG	0.667000														12			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47463663	47463663	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:47463663G>A	uc002leb.2	-	14	2145	c.1857C>T	c.(1855-1857)ccC>ccT	p.P619P	MYO5B_uc021ukb.1_Silent_p.P618P	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	619	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P619T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTTTCATGGGGGGTCTGGCAG	0.572000														73			36		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308781	79308781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:79308781G>A	uc003hlb.2	+	28	4341	c.3901G>A	c.(3901-3903)Gat>Aat	p.D1301N	FRAS1_uc003hkw.3_Missense_Mutation_p.D1301N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1300					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCACATCCGATGTTGCAGT	0.488000														18			11		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139793219	139793219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:139793219G>A	uc003yvd.3	-	12	2048	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	534	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGCCCAGGGAACCCTAAAG	0.532000										HNSCC(7;0.00092)				98			35		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751179	51751179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:51751179C>T	uc001ryk.2	-	8	1781	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.G519E|GALNT6_uc001ryj.1_Missense_Mutation_p.G84E	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	519	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAGGGGCTTCCCCCCGCGGTT	0.602000														29			21		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:17051295C>T	uc011awc.2	+	2	529	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PLCL2_uc010het.1_Missense_Mutation_p.R27C|PLCL2_uc011awd.2_Missense_Mutation_p.R27C	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	153	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAAAAGGTTCGCTCCAACTC	0.418000														11			22		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116620569	116620569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:116620569C>T	uc001lcb.3	+	14	2344	c.2009C>T	c.(2008-2010)cCa>cTa	p.P670L	FAM160B1_uc001lcc.3_Missense_Mutation_p.P670L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	670										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTCCCTCATCCACACATCCAC	0.388000														63			47		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36466174	36466174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:36466174G>A	uc003omg.3	-	9	1630	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	STK38_uc003omh.3_Missense_Mutation_p.P348S|STK38_uc003omi.3_Missense_Mutation_p.P348S	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	348	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGAGATGGGAACTTCTGGA	0.373000														119			73		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137901	56137901	+	Missense_Mutation	SNP	G	A	A	rs11552146	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56137901G>A	uc002xyn.4	+	3	719	c.556G>A	c.(556-558)Gat>Aat	p.D186N	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	186					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCAGTGGGCGATGGGGAGTT	0.502000														26			17		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784267	82784267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:82784267C>T	uc003uhx.2	-	1	1979	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	PCLO_uc003uhv.2_Missense_Mutation_p.G564R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	510	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGGTTTTCCAGATCCTGTT	0.507000														333			50		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605456	54605456	+	Missense_Mutation	SNP	G	A	A	rs140548583		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:54605456G>A	uc001cwv.1	-	3	1935	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	363	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AAGCCCCTGCGGGTGGTGCTG	0.627000														3			44		0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246921631	246921631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:246921631C>T	uc001ibr.3	+	5	1015	c.668C>T	c.(667-669)cCg>cTg	p.P223L		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	223						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AAACCTGTCCCGCTCATTGGT	0.323000														29			22		0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899650	128899650	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:128899650C>T	uc021rgn.1	+	1	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	153						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTTTCCACATCATGGGCAGAG	0.557000														10			6		0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46901047	46901047	+	Silent	SNP	G	A	A	rs112992334		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:46901047G>A	uc003cql.1	-	3	492	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	133	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCCCCTCCACGAAGTCCTCAT	0.567000														90			56		0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70411843	70411843	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:70411843G>A	uc003pfa.3	-	9	1194	c.918C>T	c.(916-918)atC>atT	p.I306I	LMBRD1_uc003pez.3_Silent_p.I233I|LMBRD1_uc010kal.3_Silent_p.I233I|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	306					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TTCCCCAGACGATCTAAAAGC	0.269000														4			14		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670698	13670698	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:13670698C>T	uc011avc.2	+	12	3130	c.2748C>T	c.(2746-2748)tgC>tgT	p.C916C	FBLN2_uc011auz.2_Silent_p.C895C|FBLN2_uc011avb.2_Silent_p.C869C|FBLN2_uc011ava.2_Silent_p.C916C	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	912	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGCACCGCTGCGGTGAGGGCC	0.647000														33			14		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10473044	10473044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10473044G>A	uc002moc.4	-	10	1943	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	TYK2_uc010dxe.3_Missense_Mutation_p.S337F|TYK2_uc002mod.2_Missense_Mutation_p.S522F	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	522	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGGGGAAGGACCGGCCCCA	0.662000														23			11		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145618702	145618702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:145618702C>T	uc003zcj.3	-	36	4324	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1417					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTGGCTAGCTCGCTGCGCTCC	0.687000														13			3		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031447	79031447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:79031447G>A	uc003kgc.3	+	1	6931	c.6859G>A	c.(6859-6861)Gaa>Aaa	p.E2287K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2287						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)		GGTGTCTAGGGAAGATTATGG	0.338000														53			25		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7727904	7727904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:7727904C>T	uc010rbf.2	-	0	38	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AAAGACTATTCCTAGTAGTAA	0.363000														1			5		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8474411	8474411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:8474411C>T	uc001mgi.1	-	6	1748	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	STK33_uc001mgj.1_Missense_Mutation_p.E277K|STK33_uc001mgk.1_Missense_Mutation_p.E277K|STK33_uc010rbn.1_Missense_Mutation_p.E236K|STK33_uc001mgl.3_Missense_Mutation_p.E90K|STK33_uc009yfp.3_5'UTR	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	277	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCATGGCTTCACTCCTACTT	0.438000														8			98		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740342	139740342	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:139740342T>C	uc003lfm.2	+	1	283	c.248T>C	c.(247-249)cTc>cCc	p.L83P	SLC4A9_uc003lfj.2_Intron|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Intron|SLC4A9_uc003lfk.2_Intron	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	83						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCTCTGCTCCTGGACATG	0.582000														12			7		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9922071	9922071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:9922071G>A	uc003gmc.3	-	6	1001	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	SLC2A9_uc003gmd.3_Missense_Mutation_p.R285C	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	314					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ACCTGCCAGCGGACGTAGGGA	0.627000														16			16		0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75200790	75200790	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:75200790C>T	uc001xqh.3	+	6	516	c.465C>T	c.(463-465)taC>taT	p.Y155Y	FCF1_uc001xqf.1_Silent_p.Y140Y|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	155	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATAAGTGTTACATTGTGGCCA	0.443000														15			12		0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878301	165878301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:165878301C>T	uc003iqx.1	+	0	202	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TRIM61_uc003iqw.3_Intron	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN	Homo sapiens chromosome 4 open reading frame 39 (C4orf39), mRNA.	43																	TTCGGGTCTCCCTAACAGACC	0.642000														8			5		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15469800	15469800	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15469800T>C	uc002nav.3	-	12	1671	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R	AKAP8_uc010dzy.3_Missense_Mutation_p.K83R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	534					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTCCAGCATCTTCACTATATG	0.443000														63			32		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97862340	97862340	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97862340G>A	uc010yva.2	+	40	2806	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	ANKRD36_uc002sxo.2_Silent_p.Q270Q|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	854										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGTCTTCTCAGAAACCACCAA	0.333000														25			6		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43967920	43967920	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43967920G>A	uc002owl.1	-	3	320	c.212_splice	c.e3-1	p.I71_splice	LYPD3_uc002owm.3_Splice_Site_p.I71_splice	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	71	UPAR/Ly6 1.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ATTGTCCGTGGACTAGGGAGA	0.642000														12			24		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172360	42172360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:42172360C>T	uc001zos.3	-	13	3037	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	937					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTGTACCTCATATTTGAGC	0.587000														7			6		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447102	41447102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:41447102C>T	uc002yyq.1	-	26	5202	c.4750G>A	c.(4750-4752)Gaa>Aaa	p.E1584K	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1584					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCCCTTCTTCGTTTTGGACA	0.527000														25			28		0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41252455	41252455	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:41252455G>A	uc003aze.3	-	0	233	c.90C>T	c.(88-90)ttC>ttT	p.F30F	XPNPEP3_uc011aox.2_5'Flank|XPNPEP3_uc003azh.3_5'Flank|XPNPEP3_uc003azi.3_5'Flank|ST13_uc011aow.2_Silent_p.F30F|XPNPEP3_uc003azf.2_5'Flank|XPNPEP3_uc003azg.2_5'Flank	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	30							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ACTCCCTCAGGAAGCGCATTT	0.642000														39			50		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460946	141460946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:141460946G>A	uc003yvh.2	-	1	836	c.821C>T	c.(820-822)cCc>cTc	p.P274L	TRAPPC9_uc003yvj.2_Missense_Mutation_p.P176L|TRAPPC9_uc003yvi.1_Missense_Mutation_p.P176L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	176					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACAGAGAAGGGGGATCTTATC	0.532000														24			6		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57707357	57707357	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:57707357C>T	uc002emh.3	+	1	286	c.183C>T	c.(181-183)tcC>tcT	p.S61S	GPR97_uc010cdc.3_Silent_p.S61S|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCGACTCCTGCAATGTGG	0.557000														62			28		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118701	194118701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:194118701C>T	uc003ftv.1	-	1	342	c.311G>A	c.(310-312)aGg>aAg	p.R104K	GP5_uc021xiz.1_Missense_Mutation_p.R104K	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	104					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCGACAGCCTCAGGGTTTT	0.557000														82			37		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456057	16456057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:16456057G>A	uc021trd.1	-	5	2017	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	ZNF287_uc002gqi.2_Missense_Mutation_p.L467F	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	460					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)		TGGATGGTAAGGTGTGCACGC	0.423000														40			33		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33465810	33465810	+	Missense_Mutation	SNP	G	A	A	rs147925131		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:33465810G>A	uc003zsz.3	-	18	2551	c.2450C>T	c.(2449-2451)tCg>tTg	p.S817L	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.S814L|NOL6_uc011lob.2_Missense_Mutation_p.S765L|NOL6_uc003ztb.1_Missense_Mutation_p.S817L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	817					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTCCCTCAGCGAGATCATCCC	0.592000														3			28		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122630878	122630878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:122630878C>T	uc003efz.1	-	19	3239	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	SEMA5B_uc011bju.1_Missense_Mutation_p.D885N|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.D979N|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	979	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTCCGTCGTCAGTGCACTTA	0.652000														26			11		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064447	78064447	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:78064447C>T	uc002ffh.4	+	2	384	c.303C>T	c.(301-303)atC>atT	p.I101I	CLEC3A_uc021tlr.1_Silent_p.I49I	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	101	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGGAGGAATCCTGGTTATCC	0.478000														32			45		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741394	156741394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:156741394G>A	uc021ygm.1	+	11	1288	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E359K|CYFIP2_uc011ddo.2_Missense_Mutation_p.E189K|CYFIP2_uc021ygn.1_Missense_Mutation_p.E384K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E384K|CYFIP2_uc003lwt.3_Missense_Mutation_p.E263K|CYFIP2_uc011ddp.2_Missense_Mutation_p.E119K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	385					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGACGAGGAGTATCGCGA	0.567000														95			83		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59547754	59547754	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:59547754G>A	uc011lee.2	-	4	481	c.420C>T	c.(418-420)ttC>ttT	p.F140F	NSMAF_uc003xtt.3_Silent_p.F109F	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	109					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTACCTGACTGAAAATGAGTG	0.294000														76			19		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910297	77910297	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:77910297G>A	uc002ffg.1	+	4	850	c.753G>A	c.(751-753)ttG>ttA	p.L251L		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	251							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ACATCGTTTTGGATTGCCTCT	0.473000														78			49		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164294	111164294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:111164294G>A	uc001vqx.3	+	47	5184	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1632	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACGGCGGCGGGAGACGAAGGC	0.632000														33			75		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228554256	228554256	+	Silent	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:228554256G>T	uc009xez.1	+	83	19376	c.19332G>T	c.(19330-19332)ctG>ctT	p.L6444L	OBSCN_uc001hsr.1_Silent_p.L1073L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6444	Ig-like 54.				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)				AGGCAGAGCTGCTGGTGCTTG	0.637000														44			32		4.65686e-17	4.74884e-17	1	1	0
C6orf170	221322	broad.mit.edu	37	6	121602820	121602820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:121602820G>A	uc003pyo.1	-	13	1546	c.1478C>T	c.(1477-1479)cCt>cTt	p.P493L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Missense_Mutation_p.P12L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	493					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CATACTTGCAGGAGAGTAATT	0.303000														4			36		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633874	70633874	+	Silent	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:70633874C>A	uc001xly.3	-	1	2020	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	SLC8A3_uc001xlw.3_Silent_p.G422G|SLC8A3_uc001xlx.3_Silent_p.G422G|SLC8A3_uc001xlz.3_Silent_p.G422G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	422	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACATGTCTCCCCCTTTCCTCA	0.502000														103			4		0.184627	0.184816	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811623	23811623	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:23811623A>T	uc001ywh.4	+	0	1170	c.694A>T	c.(694-696)Agg>Tgg	p.R232W	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R232W	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	232						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGAGACTGAGAGGAAGCAGAT	0.577000														22			19		0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411538	38411538	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:38411538G>A	uc004aba.3	-	3	719	c.696C>T	c.(694-696)ccC>ccT	p.P232P	AK131521_uc004aaz.2_5'Flank	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	232	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.N231S(1)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCTTTCGCAGGGGGTTGATCT	0.448000														1			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179495596C>T	uc021vsy.1	-	186	36610	c.36385G>A	c.(36385-36387)Gaa>Aaa	p.E12129K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13056	Ig-like 80.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000														73			38		0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843430	137843430	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:137843430C>T	uc003ers.2	-	2	901	c.699G>A	c.(697-699)agG>agA	p.R233R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	233					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TACACCATACCCTCAACATCC	0.463000														402			214		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759964	149759964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:149759964G>A	uc001esp.4	+	3	400	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	117	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCACGGAAGGAGAACCTCTG	0.463000														82			68		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560827	160560827	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160560827C>A	uc003qtc.3	+	6	1309	c.1204C>A	c.(1204-1206)Cgc>Agc	p.R402S	SLC22A1_uc003qtd.3_Missense_Mutation_p.R402S	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	402						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCGCGTGGGCCGCATCTACCC	0.557000														54			3		0.00024832	0.000249337	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16024554	16024554	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16024554C>T	uc002nbu.2	-	12	1599	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.A521A	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	521					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.A521V(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACTGTGAGTTCGCACCCAGGG	0.592000														6			12		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171814	104171814	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:104171814G>A	uc010swe.1	-	13	1481	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	480							hydrolase activity|metal ion binding	p.F480L(1)|p.F405L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GGTCTGTGCGGAACAGGCTTC	0.478000														30			19		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86877370	86877370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:86877370G>A	uc004efa.2	+	4	1266	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R	KLHL4_uc004efb.2_Missense_Mutation_p.G362R	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	362						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.Q361K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GAATAGGCAAGGAGAACTGGG	0.418000														17			46		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36156123	36156123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:36156123C>T	uc004ddk.1	+	8	1280	c.1094C>T	c.(1093-1095)tCa>tTa	p.S365L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	365						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AAAGACCTTTCAGATGGTCTT	0.318000														0			16		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14030636	14030636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14030636C>T	uc002mxo.2	+	11	1527	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	CC2D1A_uc002mxn.2_Missense_Mutation_p.P309S|CC2D1A_uc002mxp.2_Missense_Mutation_p.P410S|CC2D1A_uc010dzh.2_Intron|CC2D1A_uc002mxq.1_Missense_Mutation_p.P55S	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	410					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCAGGCTTCCCCCCAATCCA	0.587000														25			26		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791270	81791270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:81791270C>T	uc010ijp.3	+	4	557	c.508C>T	c.(508-510)Cca>Tca	p.P170S	C4orf22_uc003hmf.3_Missense_Mutation_p.P153S	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	153										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AAGACTTCTTCCAAGGCCTAC	0.373000														31			31		0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184021162	184021162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:184021162C>T	uc003fnn.1	+	8	1157	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	PSMD2_uc011brj.1_Missense_Mutation_p.S216F|PSMD2_uc011brk.1_Missense_Mutation_p.S245F	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	375					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGGCCTCCTCTTTTGTGAAT	0.488000														53			55		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39503881	39503881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:39503881C>T	uc003thb.2	+	10	1815	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	POU6F2_uc022acb.1_Intron	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	558	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCTTTTGTATCCTGCCAGGTT	0.537000														81			13		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772119	229772119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:229772119C>T	uc001hts.1	+	3	1895	c.1759C>T	c.(1759-1761)Ctc>Ttc	p.L587F	URB2_uc009xfd.1_Missense_Mutation_p.L587F	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	587						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGGCCCTTCTCCCGGACAC	0.617000														125			139		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919278	51919278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:51919278G>A	uc002pwo.3	-	4	1120	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	SIGLEC10_uc002pwp.3_Missense_Mutation_p.P242S|SIGLEC10_uc021uyl.1_Missense_Mutation_p.P217S|SIGLEC10_uc002pwq.3_Missense_Mutation_p.P242S|SIGLEC10_uc010ycz.2_Missense_Mutation_p.P252S|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.P300S|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.P112S|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	300	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGCCCCAGGGATGGGACGAG	0.662000														29			11		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756191	183756191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:183756191C>T	uc011bqv.2	+	6	914	c.914C>T	c.(913-915)cCt>cTt	p.P305L	HTR3D_uc003fmj.3_Intron|HTR3D_uc011bqu.2_Intron|HTR3D_uc010hxp.3_Intron	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	305						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P305L(1)|p.?(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCCCCTTGCCTGCAGGTGTC	0.582000														34			32		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547742	63547742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:63547742G>A	uc002lkb.3	+	11	2396	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D	CDH7_uc002ljz.3_Missense_Mutation_p.G657D	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	657					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATGACGAGGGCGGGGGAGAG	0.483000														35			28		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957304	12957304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:12957304G>A	uc003wwm.2	-	8	2986	c.2542C>T	c.(2542-2544)Cac>Tac	p.H848Y	DLC1_uc003wwk.1_Missense_Mutation_p.H411Y|DLC1_uc003wwl.1_Missense_Mutation_p.H445Y|DLC1_uc011kxx.1_Missense_Mutation_p.H337Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	848					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGGCTGATGTGGCCAGGGCCG	0.577000														66			27		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754586	76754586	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:76754586G>A	uc002lmt.3	+	1	2595	c.2595G>A	c.(2593-2595)gtG>gtA	p.V865V	SALL3_uc010dra.3_Silent_p.V472V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCAAGTCCGTGGAGAACGGGT	0.677000														28			28		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11416268	11416268	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:11416268G>A	uc021zzo.1	-	26	5070	c.4818C>T	c.(4816-4818)acC>acT	p.T1606T	THSD7A_uc021zzn.1_Silent_p.T1604T|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Silent_p.T110T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1606						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CGTAAACCCAGGTCTTTAGTC	0.348000										HNSCC(18;0.044)				2			3		0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51173993	51173993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:51173993G>A	uc001rww.4	+	1	373	c.65G>A	c.(64-66)gGa>gAa	p.G22E	ATF1_uc010smu.2_5'UTR	NM_005171	NP_005162	P18846	ATF1_HUMAN	Homo sapiens activating transcription factor 1 (ATF1), mRNA.	22					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|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			p.G22R(2)	EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GCAGTTCAGGGAGCTCACATT	0.418000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """									58			51		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874853	20874853	+	Silent	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20874853T>A	uc010tze.1	-	2	492	c.285A>T	c.(283-285)atA>atT	p.I95I	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		CCAGTAGTAATATTTTAAGGT	0.333000														104			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310296	10310296	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:10310296C>T	uc002gmm.2	-	18	2061	c.1966_splice	c.e18-1	p.E656_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	656	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTAAATTTTCCTAGAAAACC	0.373000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					18			7		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080495	29080495	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29080495C>T	uc011dll.2	+	0	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGGCAAGTTCATTGCCCTCT	0.443000														104			52		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076557	87076557	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:87076557G>A	uc011lfy.2	-	1	489	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	163	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCATCTGGAGGATCCTGACGG	0.478000														32			49		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068272	189068272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:189068272G>A	uc003izm.1	+	5	1268	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	TRIML1_uc003izn.1_Missense_Mutation_p.D109N	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	385	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAAAATCGGAGATGATTACAG	0.502000														42			51		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073275	34073276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:34073275_34073276CC>TT	uc002hjv.2	-	5	1268_1269	c.1240_1241GG>AA	c.(1240-1242)gga>AAa	p.G414K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	414					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)		GGGAATCCTTCCCCTGGGGAGT	0.599000														122			83		0	0	1	0	0
DNAJA2	10294	broad.mit.edu	37	16	47001495	47001495	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:47001495G>A	uc002eeo.2	-	4	649	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	169					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTCTGATCATGATGCGCACAC	0.478000														45			60		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123888	151123888	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:151123888G>A	uc004ffi.3	-	7	1143	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGATCAGGAAGTTGAGCA	0.498000														4			26		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020577	46020577	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46020577T>C	uc002zfn.4	+	0	81	c.56T>C	c.(55-57)gTc>gCc	p.V19A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	19						keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGCAGCCGCGTCTGCCTTCCT	0.647000														16			18		0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38757556	38757556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:38757556G>A	uc001zkc.3	+	2	339	c.304G>A	c.(304-306)Gat>Aat	p.D102N	FAM98B_uc001zkb.1_Missense_Mutation_p.D102N	NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	102						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CATATCAGGAGATATTAAAGA	0.308000														13			10		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000683	58000683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:58000683G>A	uc001sow.1	+	4	374	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	DTX3_uc001sov.1_Missense_Mutation_p.G6S|DTX3_uc001sox.1_Missense_Mutation_p.G6S|DTX3_uc001soy.1_Missense_Mutation_p.G6S	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	13					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AGCCTGTGGAGGCACCTGCAA	0.612000														110			72		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641238	29641238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29641238G>A	uc011dlw.2	-	3	801	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	133					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.D217N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATAGCTGAGGGACTTGGGGCT	0.537000														135			54		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044649	9044649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:9044649G>A	uc003jek.2	-	21	3653	c.2941C>T	c.(2941-2943)Ctc>Ttc	p.L981F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	981					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGCAGCCGAGGATGGAGCTG	0.567000														37			22		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674097	48674097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48674097C>T	uc002irk.1	+	15	3443	c.3071C>T	c.(3070-3072)tCc>tTc	p.S1024F	CACNA1G_uc002iri.1_Missense_Mutation_p.S1024F|CACNA1G_uc002irj.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irl.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irm.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irn.1_Missense_Mutation_p.S1001F|CACNA1G_uc002iro.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irp.1_Missense_Mutation_p.S1024F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irr.1_Missense_Mutation_p.S1024F|CACNA1G_uc002irs.1_Missense_Mutation_p.S1024F|CACNA1G_uc002irt.1_Missense_Mutation_p.S1024F|CACNA1G_uc002iru.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irv.1_Missense_Mutation_p.S1024F|CACNA1G_uc002irw.1_Missense_Mutation_p.S1001F|CACNA1G_uc002irx.1_Missense_Mutation_p.S937F|CACNA1G_uc002iry.1_Missense_Mutation_p.S937F|CACNA1G_uc002isg.1_Missense_Mutation_p.S937F|CACNA1G_uc002ish.1_Missense_Mutation_p.S937F|CACNA1G_uc002isi.1_Missense_Mutation_p.S914F|CACNA1G_uc002irz.1_Missense_Mutation_p.S937F|CACNA1G_uc002isa.1_Missense_Mutation_p.S937F|CACNA1G_uc002isd.1_Missense_Mutation_p.S937F|CACNA1G_uc002isb.1_Missense_Mutation_p.S937F|CACNA1G_uc002isc.1_Missense_Mutation_p.S937F|CACNA1G_uc002ise.1_Missense_Mutation_p.S937F|CACNA1G_uc002isf.1_Missense_Mutation_p.S937F|CACNA1G_uc002isj.3_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1024					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGTGGTGTCCCTGGGAGAG	0.662000														10			18		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47879173	47879173	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:47879173C>T	uc003tny.2	-	35	5674	c.5640G>A	c.(5638-5640)gtG>gtA	p.V1880V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1880	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTCACCATCACGTGGCTGA	0.657000														5			11		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823664	47823664	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:47823664C>T	uc002pgj.1	+	1	679	c.630C>T	c.(628-630)ggC>ggT	p.G210G		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	210					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGGTCCTGGGCTTCCTGTGGC	0.617000														110			51		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16942440	16942440	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16942440G>T	uc002ney.2	+	2	386	c.363G>T	c.(361-363)caG>caT	p.Q121H	SIN3B_uc002new.3_Missense_Mutation_p.Q121H|SIN3B_uc002nez.2_Missense_Mutation_p.Q121H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	121					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAAACATACAGTCGCCTCTGA	0.502000														58			27		2.2171e-23	2.26324e-23	1	1	0
SCARF2	91179	broad.mit.edu	37	22	20781786	20781786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:20781786G>A	uc002zsj.2	-	9	1712	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	SCARF2_uc002zsk.2_Missense_Mutation_p.P531L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	531					cell adhesion	integral to membrane	protein binding|receptor activity	p.P535S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCCCTGAGGGTGGCTCCAG	0.622000														3			71		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110765	72110765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:72110765G>A	uc002fby.3	+	4	862	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	278	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.N277H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CATACTGAACGAACACACCTT	0.552000														51			45		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769459	51769459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:51769459C>T	uc001jix.4	+	7	1972	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	DQ577099_uc021pqm.1_5'Flank	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	525					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GATGACTGGCCAGTTGAGCTC	0.527000														82			91		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40184975	40184975	+	Missense_Mutation	SNP	C	T	T	rs66473060		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:40184975C>T	uc002yxf.3	+	3	581	c.541C>T	c.(541-543)Cct>Tct	p.P181S	ETS2_uc002yxg.3_Missense_Mutation_p.P41S	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	41					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCTGTTTTTCCTTCTCTAAA	0.398000														86			38		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135848	141135848	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141135848C>T	uc002tvj.1	-	67	11511	c.10539G>A	c.(10537-10539)caG>caA	p.Q3513Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3513					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)		ATGTACATGTCTGTGGCTCTG	0.383000										TSP Lung(27;0.18)				24			26		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148341974	148341974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:148341974G>A	uc001eqf.3	-	4	634	c.599C>T	c.(598-600)cCt>cTt	p.P200L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc001erd.4_Missense_Mutation_p.P200L|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'UTR|NBPF14_uc010pav.2_Missense_Mutation_p.P200L|NBPF14_uc010paw.2_Missense_Mutation_p.P125L	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	131	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGAGTCCTCAGGGACTTTGCT	0.502000														434			159		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702363	43702363	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43702363C>T	uc002ovy.3	-	2	597	c.495G>A	c.(493-495)gtG>gtA	p.V165V	PSG4_uc010xwk.1_Silent_p.V4V|PSG4_uc002ovz.3_Silent_p.V165V|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	165	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGTTAAGATCACAGCCTCCA	0.547000														162			77		0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521959	14521959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14521959G>A	uc002myo.3	-	4	573	c.455C>T	c.(454-456)tCc>tTc	p.S152F	DDX39A_uc010xnp.2_Missense_Mutation_p.S152F|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.S152F	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	152	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTTCTTGATGGAGAGACCACC	0.597000														52			58		0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84347203	84347203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:84347203G>A	uc003hom.3	-	13	2898	c.2719C>T	c.(2719-2721)Ctt>Ttt	p.L907F	HELQ_uc010ikb.3_Missense_Mutation_p.L840F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	907							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGACTCCAAGAATGGCAGCT	0.383000								Other identified genes with known or suspected DNA repair function						55			39		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272861	28272861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:28272861G>A	uc009xky.3	-	5	828	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.R244C|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	244							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTCCCCACGAATTTGTCTC	0.403000														19			16		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435781	5435781	+	Missense_Mutation	SNP	G	A	A	rs148029829		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:5435781G>A	uc001ihy.3	-	3	1078	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	TUBAL3_uc001ihz.3_Missense_Mutation_p.S307F	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	347					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S347F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAACTGAACAGAGTGCCTCGA	0.577000														23			17		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272240	158272240	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:158272240T>C	uc002tzj.1	-	7	1101	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	CYTIP_uc010zcl.1_Silent_p.K237K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	343					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CAGGGATAAATTTCAAGAGTT	0.473000														27			36		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251631	24251631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:24251631G>A	uc003xdz.2	+	3	554	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E33K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E33K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	112					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)		ACCCAGAGGAGAGGAAATTAC	0.458000														27			15		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654908	99654908	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:99654908C>T	uc003uso.3	+	1	423	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZSCAN21_uc011kje.1_Silent_p.F92F|ZSCAN21_uc003usn.1_Silent_p.F92F	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	93	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGCAGTTCCTGACCATCC	0.632000														6			24		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096720	107096720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:107096720G>A	uc003dwi.1	+	0	533	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	96										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAAAGTCCAGGAAAAGACTGA	0.368000														15			24		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995135	120995135	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:120995135T>C	uc001typ.4	+	4	1179	c.696T>C	c.(694-696)ccT>ccC	p.P232P	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Silent_p.P138P	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	232					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTATCCACCTACTGCAGCCA	0.478000														73			64		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822128	93822128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:93822128G>A	uc001pep.2	+	11	2445	c.2288G>A	c.(2287-2289)gGg>gAg	p.G763E	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	763	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACGCAAGAGGGGAAAGGTAC	0.532000														7			34		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737452	164737452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164737452C>T	uc003fei.3	-	27	3424	c.3361G>A	c.(3361-3363)Gca>Aca	p.A1121T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1121	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGCTTAAATGCTGTATGTTCC	0.438000										HNSCC(35;0.089)				32			43		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327355	57327355	+	Missense_Mutation	SNP	G	A	A	rs143073381		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:57327355G>A	uc002qnu.2	-	6	2806	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R790C|PEG3_uc002qnv.2_Missense_Mutation_p.R819C|PEG3_uc002qnw.2_Missense_Mutation_p.R695C|PEG3_uc002qnx.2_Missense_Mutation_p.R693C|PEG3_uc010etr.2_Missense_Mutation_p.R819C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	819					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R819C(3)|p.R819H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCCAGCACGAACTCTCTGA	0.458000														81			44		0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371502	114371503	+	RNA	DNP	GG	AA	AA			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:114371502_114371503GG>AA	uc022bly.1	-	1		c.603_604CC>TT								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		TCGTTGTTGGGGATGAGGGACC	0.505000														51			23		0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546325	233546325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:233546325G>A	uc002vtc.3	+	3	824	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	EFHD1_uc010fyf.3_Missense_Mutation_p.E110K|EFHD1_uc002vtd.3_Missense_Mutation_p.E94K	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	206							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAGTAAGTTTGAAGCAGAGTT	0.552000														93			51		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104175794	104175794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:104175794G>A	uc001kvg.1	-	2	1264	c.737C>T	c.(736-738)tCc>tTc	p.S246F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S246F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	246					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGTCCAAGGAGCCATAGAA	0.617000														12			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141680542	141680542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:141680542C>T	uc002tvj.1	-	20	4283	c.3311G>A	c.(3310-3312)tGg>tAg	p.W1104*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.W286*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1104	LDL-receptor class A 9.				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)		ACCTGTACTCCAACAGGAAAA	0.433000										TSP Lung(27;0.18)				39			46		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299745	45299745	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:45299745G>A	uc002ilg.3	+	6	616	c.488_splice	c.e6-1	p.G163_splice	MYL4_uc002ilh.3_Splice_Site_p.G163_splice	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	163	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ACCCACCGCAGGAGAGAAGAT	0.522000														35			21		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931196	157931196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:157931196G>A	uc003wno.3	-	6	1043	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	PTPRN2_uc003wnp.3_Missense_Mutation_p.H291Y|PTPRN2_uc003wnq.3_Missense_Mutation_p.H308Y|PTPRN2_uc003wnr.3_Missense_Mutation_p.H270Y|PTPRN2_uc011kwa.2_Missense_Mutation_p.H331Y	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	308						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGGTATGAATCCGTGCT	0.617000														54			15		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058370	170058370	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:170058370G>A	uc002ues.3	-	43	8433	c.8220C>T	c.(8218-8220)acC>acT	p.T2740T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2740	LDL-receptor class A 17.				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)	TCGGTGAGCAGGTGTGAAGTG	0.403000														31			18		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084991	10084991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10084991G>A	uc002mmq.1	-	45	3522	c.3436C>T	c.(3436-3438)Cct>Tct	p.P1146S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1146	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGTCCAGGAGGGCCAATCACC	0.627000														56			11		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43244488	43244488	+	Missense_Mutation	SNP	C	T	T	rs144627053	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43244488C>T	uc002oue.3	-	0	181	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	17					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGCAGGAGCCCCTTCCAGGTG	0.612000														126			57		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763404	77763404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:77763404C>T	uc003yau.2	+	9	4634	c.4247C>T	c.(4246-4248)tCc>tTc	p.S1416F	ZFHX4_uc003yaw.1_Missense_Mutation_p.S1371F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1371						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGATACATTCCCAGTATCAT	0.463000										HNSCC(33;0.089)				29			11		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811572	38811572	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:38811572G>A	uc001zke.4	-	4	505	c.327_splice	c.e4-1	p.L109_splice	RASGRP1_uc010bbe.3_Splice_Site|RASGRP1_uc010bbf.3_Splice_Site|RASGRP1_uc010bbg.3_Splice_Site|RASGRP1_uc001zkd.4_Splice_Site_p.L109_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	109	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				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)		CATCCTTATAGGTAGGGCTGT	0.373000														41			27		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500129	33500129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:33500129G>A	uc021vft.1	+	16	2864	c.2841G>A	c.(2839-2841)atG>atA	p.M947I	LTBP1_uc002rou.3_Missense_Mutation_p.M621I|LTBP1_uc002rov.3_Missense_Mutation_p.M568I|LTBP1_uc010ymz.2_Missense_Mutation_p.M621I|LTBP1_uc010yna.2_Missense_Mutation_p.M568I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	947	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGATTTATGGCCAGTGAGG	0.463000														26			37		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4119180	4119180	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:4119180G>A	uc003smx.3	+	21	3427	c.3288G>A	c.(3286-3288)ggG>ggA	p.G1096G	SDK1_uc010kso.3_Silent_p.G372G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1096	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTATGACGGGAAAACGTCCA	0.572000														87			19		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15215752	15215752	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:15215752G>T	uc002gon.3	-	6	1112	c.925C>A	c.(925-927)Ctc>Atc	p.L309I		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGGAGCGGAGAATATTGTCA	0.463000														34			21		2.39556e-15	2.43781e-15	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111164451	111164451	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:111164451C>A	uc001vqx.3	+	47	5341	c.5052C>A	c.(5050-5052)ttC>ttA	p.F1684L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1684	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCAGAGCTTCCAGGGCTCGC	0.637000														98			42		9.88483e-10	9.99692e-10	1	1	0
SERPINB3	6317	broad.mit.edu	37	18	61306534	61306534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61306534G>A	uc002ljf.3	-	6	739	c.653C>T	c.(652-654)tCc>tTc	p.S218F	SERPINB3_uc002lje.3_Intron|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	218					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAAATTAAAGGAATTGTATTG	0.368000														13			13		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15559193	15559193	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15559193C>T	uc001ioc.1	-	29	3156	c.3156G>A	c.(3154-3156)agG>agA	p.R1052R	ITGA8_uc010qcb.1_Silent_p.R1037R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	1052					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGCTGTTCCCTGTCGGTCA	0.443000														28			26		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99039905	99039905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:99039905G>A	uc003yic.3	+	13	2435	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	MATN2_uc010mbh.1_Missense_Mutation_p.G694E|MATN2_uc003yid.3_Missense_Mutation_p.G735E|MATN2_uc003yie.1_Missense_Mutation_p.G735E|MATN2_uc010mbi.1_Missense_Mutation_p.G568E|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	735	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTATGACTGGGCTGGCCCTG	0.517000														28			13		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109438085	109438085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:109438085G>A	uc010agk.2	+	4	1232	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MYO16_uc001vqt.1_Missense_Mutation_p.E182K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	182					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTATCTGGATGAAAATGGTAG	0.373000														61			29		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382679	79382679	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:79382679G>A	uc002beq.3	-	0	537	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RASGRF1_uc002bep.3_Silent_p.F54F|RASGRF1_uc002ber.4_Silent_p.F54F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	54	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCGCTCTCGAAGTAGAAGA	0.647000														43			30		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374158	33374158	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:33374158C>T	uc003oef.4	+	7	2172	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	KIFC1_uc011drf.2_Silent_p.P566P	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	574	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.P574P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACTTGACCCCGGCTTAGCCC	0.642000														101			226		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257242	63257242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:63257242C>T	uc011cqt.2	-	0	305	c.305G>A	c.(304-306)tGg>tAg	p.W102*		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	102					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCCAGTGTCCACTTGTTGAG	0.587000														11			8		0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67425821	67425821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:67425821C>T	uc003xwg.3	+	4	782	c.389C>T	c.(388-390)tCa>tTa	p.S130L	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_Silent_p.L109L|C8orf46_uc003xwi.3_5'UTR	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	130										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCTCTGCCTCATTGGAGGCG	0.597000														55			29		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342593	117342593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:117342593C>T	uc001prh.1	-	14	3126	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	982	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCCTCCTCAGTGCTGATG	0.582000														14			105		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118320	37118320	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:37118320C>T	uc002oek.3	+	4	1634	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	ZNF382_uc010efa.3_Silent_p.L458L|ZNF382_uc010efb.3_Silent_p.L506L|ZNF382_uc002oel.3_Silent_p.L506L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	507	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATCAAACCTCATTCGCCATC	0.428000														32			31		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183532329	183532329	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:183532329C>T	uc001gqj.4	-	13	1565	c.1290_splice	c.e13+1	p.V430_splice	NCF2_uc010pod.2_Splice_Site_p.V385_splice|NCF2_uc010poe.2_Splice_Site_p.V349_splice|NCF2_uc001gqk.4_Splice_Site_p.V430_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	430					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATTGCACTCACCACTGTGTTC	0.473000														48			46		0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11606796	11606796	+	Silent	SNP	G	A	A	rs140986196	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:11606796G>A	uc002mrz.2	-	2	665	c.528C>T	c.(526-528)ccC>ccT	p.P176P		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGTCGCTGAGGGGCTTCAGGG	0.627000														18			23		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001390	95001390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:95001390G>A	uc002btj.3	+	18	2340	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	MCTP2_uc010boj.3_Missense_Mutation_p.E488K|MCTP2_uc010bok.3_Missense_Mutation_p.E704K|MCTP2_uc002btl.3_Missense_Mutation_p.E347K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	759					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGGGTTGATTGAAAGAATCTA	0.299000														14			17		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32086587	32086587	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32086587G>A	uc003nzn.3	-	10	1242	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Silent_p.F400F|ATF6B_uc003nzp.1_Silent_p.F92F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	403					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAAGAGAAGGAAGACCATGA	0.493000														420			65		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83251022	83251022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:83251022G>A	uc010vns.2	+	5	961	c.697G>A	c.(697-699)Gga>Aga	p.G233R	CDH13_uc002fgx.3_Missense_Mutation_p.G186R|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.G147R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	186	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGAGCCTAAAGGAATTTTCAG	0.473000														37			44		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211459282	211459282	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:211459282C>T	uc010fur.3	+	12	1315	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	CPS1_uc002vee.4_Silent_p.T405T|CPS1_uc010fus.3_5'UTR	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	405					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P411S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGCTACCACCATTACATCAG	0.378000														27			17		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088558	86088558	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:86088558G>C	uc021rxf.1	+	0	700	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	FLRT2_uc001xvr.3_Missense_Mutation_p.E234Q|FLRT2_uc010atd.3_Missense_Mutation_p.E234Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	234					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAAGCTCAAGGAATTTTCAAT	0.517000														46			43		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111846817	111846817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:111846817G>A	uc003vge.2	+	0	175	c.46G>A	c.(46-48)Gac>Aac	p.D16N	DOCK4_uc003vfx.3_5'Flank|DOCK4_uc003vfy.3_5'Flank|DOCK4_uc003vga.1_5'Flank|DOCK4_uc010ljt.1_5'Flank|ZNF277_uc003vgd.3_Missense_Mutation_p.D16N|ZNF277_uc003vgf.2_5'UTR|ZNF277_uc003vgc.3_Missense_Mutation_p.D16N	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	16						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AATGCAGGAAGACCGTGATGG	0.642000														10			17		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119427889	119427889	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:119427889G>A	uc004eso.4	-	2	446	c.219C>T	c.(217-219)ttC>ttT	p.F73F	FAM70A_uc004esp.4_Silent_p.F73F|FAM70A_uc010nqo.3_Silent_p.F73F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	73						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						TGATTCCAAGGAACGATCCAA	0.408000														7			32		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36714220	36714220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:36714220C>T	uc003omr.1	-	15	1220	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R	CPNE5_uc003omp.1_Missense_Mutation_p.G93R|CPNE5_uc010jwn.1_Missense_Mutation_p.G35R|CPNE5_uc003omq.1_Missense_Mutation_p.G35R	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	385	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCTTGGCCCCGAAGCCCAGG	0.642000														64			112		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913174	43913174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43913174G>A	uc002zbg.3	-	1	175	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	24					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GCCTCATTCCGACCCCCCTCA	0.498000														146			66		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155314037	155314037	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:155314037C>T	uc021xge.1	-	1	451	c.174G>A	c.(172-174)aaG>aaA	p.K58K	PLCH1_uc021xgd.1_Silent_p.K58K|PLCH1_uc021xgf.1_Silent_p.K40K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	58	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTCTCACTCTTCCTAGAGG	0.483000														97			121		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078786	27078786	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:27078786C>T	uc001mre.1	+	3	626	c.258C>T	c.(256-258)ttC>ttT	p.F86F	BBOX1_uc009yih.1_Silent_p.F86F|BBOX1_uc001mrg.1_Silent_p.F86F|BBOX1_uc021qfd.1_Silent_p.F86F	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	86					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.E85K(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACAGTGAATTCCAGGCTGATT	0.408000														9			70		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001844	98001844	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:98001844T>G	uc003dsj.1	+	0	113	c.113T>G	c.(112-114)gTg>gGg	p.V38G		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTGTTCTTGGTGATCTATCTC	0.423000														125			142		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48756172	48756172	+	Silent	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:48756172A>G	uc001zwx.2	-	40	5384	c.4989T>C	c.(4987-4989)tgT>tgC	p.C1663C	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1663	EGF-like 28; calcium-binding.		C -> R (in MFS).|C -> Y (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTGTTGTAACATGTCCCTG	0.408000														27			15		0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55918423	55918423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:55918423G>A	uc002xye.3	+	12	1191	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Missense_Mutation_p.M328I	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	366					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			ACTCTAAAATGAAGGCAGAAA	0.308000								Editing and processing nucleases						45			26		0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763572	44763572	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:44763572C>T	uc011baa.2	+	3	1518	c.1263C>T	c.(1261-1263)tgC>tgT	p.C421C	ZNF502_uc003cns.3_Silent_p.C421C|ZNF502_uc011bab.2_Silent_p.C421C|ZNF502_uc003cnt.3_Silent_p.C421C	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGAGCATTTGCCTTATTCGGC	0.438000														20			16		0	0	1	0	0
SLC7A5P2	387254	broad.mit.edu	37	16	21531289	21531289	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:21531289A>G	uc002djd.3	-	0	477	c.398T>C	c.(397-399)cTc>cCc	p.L133P	LOC23117_uc021tel.1_Intron|LOC100271836_uc002dja.3_Non-coding_Transcript					Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 (SLC7A5P2), non-coding RNA.																		CTCGATCCAGAGCTTGAGGAA	0.642000														31			4		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781454	52781454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:52781454C>T	uc001wzr.3	+	0	439	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	63						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	CGCAGGAGCTCCCTCTCCTTG	0.687000														29			17		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741134	126741134	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:126741134C>T	uc003ejg.3	+	20	4245	c.4245C>T	c.(4243-4245)ctC>ctT	p.L1415L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1415					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			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)		TTTCCGACCTCATCGAGAAGA	0.652000														19			19		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219752	42219752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42219752C>T	uc002orl.3	+	3	1008	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.S296F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	296	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATAGTGGATCCTATACGTGC	0.478000														41			22		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584276	8584276	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:8584276C>T	uc003glk.3	+	1	1180	c.687C>T	c.(685-687)ctC>ctT	p.L229L	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	229					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCGCTGCCTCATCCAGCAGA	0.632000														30			28		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15469802	15469802	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15469802C>T	uc002nav.3	-	12	1669	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	AKAP8_uc010dzy.3_Silent_p.V82V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	533					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CCAGCATCTTCACTATATGTC	0.438000														62			31		0	0	1	0	0
PTTG1IP	754	broad.mit.edu	37	21	46276172	46276172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:46276172G>A	uc002zgb.2	-	3	672	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	129					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		CTCCTGTCCGGCTTCCGGCTC	0.627000														34			50		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229544	3229544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:3229544G>A	uc004crg.4	-	6	6857	c.6700C>T	c.(6700-6702)Ctc>Ttc	p.L2234F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2234	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCACTTTGAGCACCACGTAG	0.512000														4			33		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10032312	10032312	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:10032312G>A	uc002wno.3	+	8	2037	c.1644_splice	c.e8-1	p.G548_splice	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Splice_Site_p.G548_splice|ANKRD5_uc010gbz.3_Splice_Site_p.G359_splice	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	548							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTTTACAGAGCTAACGTTAA	0.368000														32			11		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15106407	15106407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15106407G>A	uc001int.2	+	5	721	c.467G>A	c.(466-468)gGa>gAa	p.G156E	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G103E	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	103					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTAGTATGGGATCCTACATT	0.358000														30			13		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587483	36587483	+	Silent	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:36587483A>G	uc003aox.3	-	5	918	c.693T>C	c.(691-693)ttT>ttC	p.F231F	APOL4_uc003aow.3_Silent_p.F228F|APOL4_uc010gww.3_Silent_p.F74F	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	232					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AATCAAGTGCAAAAGAAAGCA	0.478000														5			54		0	0	1	0	0
AUH	549	broad.mit.edu	37	9	94118217	94118217	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:94118217C>A	uc004arf.4	-	2	401	c.366G>T	c.(364-366)aaG>aaT	p.K122N	AUH_uc004arg.4_Missense_Mutation_p.K122N|AUH_uc011ltu.1_Missense_Mutation_p.K122N	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	122					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCGTACTTTCTTATCAGATT	0.318000														3			25		1.80694e-10	1.82932e-10	1	1	0
ZNF224	7767	broad.mit.edu	37	19	44610893	44610893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:44610893C>T	uc002oyh.2	+	5	897	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	194					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CCTTCGTATTCATCAGAGAGT	0.423000														82			42		0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4248017	4248017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:4248017G>A	uc003ghr.1	-	1	181	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	TMEM128_uc003ghq.1_Missense_Mutation_p.H27Y|TMEM128_uc003ghs.3_Missense_Mutation_p.H51Y|TMEM128_uc011bvv.1_Missense_Mutation_p.H51Y|TMEM128_uc011bvw.1_Missense_Mutation_p.H51Y	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	Homo sapiens transmembrane protein 128 (TMEM128), mRNA.	51						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AATCCAGAATGGATATTAAGT	0.358000														28			27		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140647	56140647	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56140647C>T	uc002xyn.4	+	9	1819	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	PCK1_uc010zzm.2_Silent_p.L235L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	552				KL -> NV (in Ref. 1; AAA60084).	gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCACCAAGCTCACGCCCATAG	0.542000														41			18		0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4867659	4867659	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:4867659G>A	uc002cxx.4	-	9	883	c.846C>T	c.(844-846)atC>atT	p.I282I	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Silent_p.I196I|GLYR1_uc002cya.2_Silent_p.I282I|GLYR1_uc010uxv.1_Silent_p.I201I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	282					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTTGGAGACGATTCCACTTC	0.502000														62			55		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163329	32163329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32163329G>A	uc003obb.3	-	29	6036	c.5897C>T	c.(5896-5898)cCg>cTg	p.P1966L	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.P626L|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1966					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGCGGGATCGGAATGTTGGA	0.622000														663			250		0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278170	7278170	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:7278170G>T	uc003srb.2	+	2	728	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	C1GALT1_uc003sra.3_Missense_Mutation_p.D169Y|C1GALT1_uc010kto.2_Missense_Mutation_p.D169Y	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	169					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTTGAAAGCAGATGATGACAC	0.353000														35			8		5.4927e-09	5.53786e-09	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737910	62737910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:62737910C>T	uc011abt.2	-	0	275	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	92			G -> R (in a colorectal cancer sample; somatic mutation).			plasma membrane	opioid receptor activity|protein binding	p.G92R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTGAAGAGCCCGTCGGCGAC	0.627000														8			22		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040504	103040504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103040504C>T	uc002tbx.3	+	3	788	c.304C>T	c.(304-306)Cct>Tct	p.P102S	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	102					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GAAAAGCTATCCTCACATCAT	0.428000														36			21		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806258	97806258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:97806258C>T	uc011bgs.2	+	0	242	c.242C>T	c.(241-243)cCt>cTt	p.P81L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTATAACCCCTAGGATGCTG	0.418000														122			52		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263903	111263903	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:111263903A>T	uc003dxw.3	+	1	242	c.72A>T	c.(70-72)gaA>gaT	p.E24D	CD96_uc003dxv.3_Missense_Mutation_p.E24D|CD96_uc003dxx.3_Missense_Mutation_p.E24D|CD96_uc010hpy.1_Missense_Mutation_p.E24D	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAGTTTGGGAAAAAACAGTCA	0.398000									Opitz Trigonocephaly syndrome					70			28		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572549	11572549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11572549C>T	uc002gne.3	+	15	2968	c.2900C>T	c.(2899-2901)tCc>tTc	p.S967F	DNAH9_uc010coo.3_Missense_Mutation_p.S261F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	967	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S967S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGGCTTTCCCCACAAAAT	0.537000														52			42		0	0	1	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														27			3		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147110	26147110	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:26147110G>A	uc002dof.3	+	1	1304	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	304					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CACTGTCAAAGAAACCCGAGA	0.547000														113			48		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319197	43319197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43319197C>T	uc002yzw.3	-	12	2077	c.1835G>A	c.(1834-1836)aGt>aAt	p.S612N	C2CD2_uc002yzs.3_Missense_Mutation_p.S81N|C2CD2_uc002yzt.3_Missense_Mutation_p.S228N|C2CD2_uc002yzu.3_Missense_Mutation_p.S444N|C2CD2_uc002yzv.3_Missense_Mutation_p.S457N	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	612						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTCCAAGACACTCATGGAGCT	0.632000														45			45		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:196438156C>T	uc001gtd.1	-	5	487	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E143K|KCNT2_uc001gtf.1_Missense_Mutation_p.E143K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E143K|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	143						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAATTATTTCCAAGATGAAG	0.313000														14			9		0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57863570	57863570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:57863570C>T	uc001xcx.4	+	2	1026	c.872C>T	c.(871-873)tCc>tTc	p.S291F	NAA30_uc010trk.2_Missense_Mutation_p.S33F|NAA30_uc010aow.3_Non-coding_Transcript	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	291	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GCCGTGGATTCCAAATACAGG	0.373000														21			22		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186692894	186692894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:186692894G>A	uc002upl.3	+	20	20752	c.20752G>A	c.(20752-20754)Gaa>Aaa	p.E6918K	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGTTCTCAGGAACAAAAGCC	0.294000														30			26		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49072962	49072962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:49072962C>T	uc004dnb.3	-	26	3211	c.3149G>A	c.(3148-3150)gGa>gAa	p.G1050E	CACNA1F_uc010nip.3_Missense_Mutation_p.G1039E	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1050					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGACACGTCTCCATCTGGGTA	0.567000														0			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075800	9075800	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9075800G>A	uc002mkp.3	-	2	11850	c.11646C>T	c.(11644-11646)atC>atT	p.I3882I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3883	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATCTCAGTGATCCAAGGTG	0.448000														26			22		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175391	133175391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:133175391G>A	uc002ttl.3	+	0	1245	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	259						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTGGCCGGGGGCACGCGG	0.627000														46			52		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545640	151545640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:151545640G>A	uc003eze.3	+	4	970	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	294					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTTATAAAAGGACATGTTTA	0.413000														32			28		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639211	15639211	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15639211T>A	uc001ioc.1	-	20	2206	c.2206A>T	c.(2206-2208)Aca>Tca	p.T736S	ITGA8_uc010qcb.1_Missense_Mutation_p.T721S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	736					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTTACATTTGTTCCAGACACC	0.448000														32			35		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809549	48809549	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:48809549C>T	uc002rwp.2	+	1	1891	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	STON1-GTF2A1L_uc021vhf.1_Silent_p.L593L|STON1-GTF2A1L_uc002rwo.4_Silent_p.L593L|STON1-GTF2A1L_uc010fbm.3_Silent_p.L593L|STON1-GTF2A1L_uc010yol.2_Silent_p.L593L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	593					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGAAGTCTCTGAAAGCTAA	0.473000														65			30		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32058175	32058175	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:32058175G>A	uc003jhl.3	+	11	2554	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	PDZD2_uc003jhm.3_Silent_p.K722K|PDZD2_uc011cnx.1_Silent_p.K548K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	722					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGGCCCAAGGACAGGATCG	0.502000														32			21		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738377	229738377	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:229738377G>A	uc001htq.3	-	3	703	c.537C>T	c.(535-537)ctC>ctT	p.L179L	TAF5L_uc001htr.3_Silent_p.L179L	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	179					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTCACTTTGGAGGTAGCGGA	0.468000														90			107		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71690521	71690521	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:71690521T>C	uc002fax.3	-	14	2349	c.2343A>G	c.(2341-2343)tcA>tcG	p.S781S	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Silent_p.S714S	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	781	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGAAGGTTGACGTAACTG	0.453000														49			79		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70778320	70778320	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:70778320C>T	uc003pfc.1	+	14	1293	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	COL19A1_uc010kam.2_Silent_p.S288S	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	392	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CATAGGGTTCCCTGGGGATAC	0.408000														3			27		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33055774	33055774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:33055774G>A	uc011axk.1	-	15	1769	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	GLB1_uc003cfh.1_Missense_Mutation_p.S473F|GLB1_uc003cfi.1_Missense_Mutation_p.S503F|GLB1_uc003cfj.1_Missense_Mutation_p.S372F	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	503					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GAGGATATTGGAACTGAGAGT	0.542000														25			6		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126278	99126278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:99126278G>A	uc001knf.3	-	27	3455	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W	RRP12_uc001kne.3_Missense_Mutation_p.R121W|RRP12_uc009xvl.3_Missense_Mutation_p.R223W|RRP12_uc009xvm.3_Missense_Mutation_p.R824W|RRP12_uc010qou.2_Missense_Mutation_p.R1045W|RRP12_uc009xvn.3_Missense_Mutation_p.R1006W	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1106						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGCCATGCCCGGCTCCTCTGT	0.607000														56			46		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950783	209950783	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:209950783C>T	uc001hho.3	+	11	1560	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Silent_p.C360C|TRAF3IP3_uc009xcr.3_Silent_p.C380C	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	380						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGATTGAATGCCTGCAAGGGG	0.542000														39			30		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320620	48320620	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:48320620G>A	uc010nid.3	-	10	811	c.633_splice	c.e10+1	p.S211_splice	SLC38A5_uc004djk.4_Splice_Site_p.S160_splice	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	211					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTGACTCACCGAAACAAGGAA	0.537000														5			12		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717286	142717286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:142717286C>T	uc022cfm.1	-	0	1639	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E547K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E547K|SLITRK4_uc004fby.3_Missense_Mutation_p.E547K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	547	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAACTTCTCCACCCACAGC	0.458000														15			65		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262464	43262464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:43262464C>T	uc002lbe.3	+	19	3559	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	SLC14A2_uc010dnj.3_Nonsense_Mutation_p.Q915*	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	915						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.Q915H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAAAGTATCAGGCCTACGA	0.498000														50			38		0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305163	44305163	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:44305163C>T	uc003jog.1	-	2	561	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	187					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCTGTCCTCTCCTTGGAGCTC	0.433000														68			47		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938438	38938438	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:38938438C>T	uc021wvy.1	-	13	2500	c.2301G>A	c.(2299-2301)ggG>ggA	p.G767G	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	767					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGATCCATTCCCCGCAGAGGA	0.468000														21			35		0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102444279	102444279	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:102444279A>C	uc003koa.1	-	1	215	c.133T>G	c.(133-135)Ttc>Gtc	p.F45V	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Missense_Mutation_p.F45V	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	45					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTACCTTTGAAGACAAATTTT	0.343000														16			22		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24888627	24888627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:24888627G>A	uc002dmu.3	+	6	757	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_uc002dms.3_Missense_Mutation_p.D112N|SLC5A11_uc010vcd.2_Missense_Mutation_p.D141N|SLC5A11_uc002dmt.3_Missense_Mutation_p.D112N|SLC5A11_uc010vce.2_Missense_Mutation_p.D106N|SLC5A11_uc010bxt.3_Missense_Mutation_p.D112N	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483000														191			101		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	T	T	rs146151355		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:45633577C>T	uc001wwd.4	+	9	1696	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_uc001wwc.2_Missense_Mutation_p.R533C|FANCM_uc010anf.3_Missense_Mutation_p.R507C|FANCM_uc001wwe.4_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					17			17		0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46857023	46857023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:46857023C>T	uc002pem.3	+	1	243	c.140C>T	c.(139-141)gCc>gTc	p.A47V	PPP5C_uc002pen.3_Missense_Mutation_p.A47V|PPP5C_uc010xya.2_5'UTR	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	47					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TACGAGAACGCCATCAAGTTC	0.607000														32			11		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96458262	96458262	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:96458262C>T	uc010yuf.1	+	2		c.280C>T				NM_207328		Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.						glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTTTGTGGGTCGCTGTTGCCA	0.607000														28			16		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166910622	166910622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:166910622G>A	uc003irh.2	+	1	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_uc021xud.1_Missense_Mutation_p.G87R|TLL1_uc011cjn.2_Missense_Mutation_p.G87R|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	87					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333000														45			33		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169390657	169390657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169390657G>A	uc001gga.1	-	2	1180	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.R338*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.R338*|C1orf114_uc001ggb.3_Nonsense_Mutation_p.R338*|C1orf114_uc001ggc.1_Nonsense_Mutation_p.R338*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	338										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTTTCTGTCGAGGGGAAAGA	0.383000														69			40		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207516587	207516588	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:207516587_207516588GG>AA	uc002vbr.1	-	11	1808_1809	c.1691_1692CC>TT	c.(1690-1692)gcc>gTT	p.A564V		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	564						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGGCAGAGAAGGCCCTGCACAC	0.475000														44			25		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52272349C>T	uc002pxr.3	+	1	483	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	146					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478000														53			27		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100175416	100175416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:100175416G>A	uc002taf.3	-	20	3425	c.3281C>T	c.(3280-3282)gCc>gTc	p.A1094V	AFF3_uc002tag.3_Missense_Mutation_p.A1069V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1069					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTACAGGAGGGCCAGGCATCG	0.468000											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			26		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872240	189872240	+	Silent	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:189872240A>C	uc002uqj.1	+	44	3387	c.3270A>C	c.(3268-3270)ccA>ccC	p.P1090P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1090	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCAAGGCCCACGTGGTGACA	0.393000														18			4		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631202	32631202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:32631202G>A	uc003zrg.1	-	0	4466	c.4376C>T	c.(4375-4377)cCa>cTa	p.P1459L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1459	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCCCGAGATGGGTAGAGGCA	0.443000														14			126		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24996708	24996708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:24996708C>T	uc001bjm.3	+	14	2526	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	SRRM1_uc010oel.2_Missense_Mutation_p.P780S|SRRM1_uc009vri.1_Missense_Mutation_p.P697S	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	768	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCAGCACCTCCATCCCCCGT	0.582000														9			79		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531573	89531573	+	Missense_Mutation	SNP	G	A	A	rs9667365	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:89531573G>A	uc001pdb.3	-	7	1413	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	362	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCTCTTTCCGATACATATTA	0.448000														49			32		0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943258	45943258	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:45943258G>A	uc003coz.2	+	2	1158	c.978G>A	c.(976-978)cgG>cgA	p.R326R	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.R314R|CCR9_uc003cpa.2_Silent_p.R314R|CCR9_uc021wwv.1_Silent_p.R314R	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	326					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GATTCCGCCGGGATCTCGTGA	0.512000														36			27		0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252139	26252139	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26252139T>C	uc003nhh.3	+	0	261	c.261T>C	c.(259-261)cgT>cgC	p.R87R	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	87					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ACAACAAGCGTTCGACCATCA	0.602000														149			64		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600105	15600105	+	Missense_Mutation	SNP	C	T	T	rs138187704		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:15600105C>T	uc001ioc.1	-	25	2734	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	ITGA8_uc010qcb.1_Missense_Mutation_p.E897K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	912					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGTGGAATTCGACCACATGT	0.498000														31			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590660	179590660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179590660C>T	uc021vsy.1	-	66	16882	c.16657G>A	c.(16657-16659)Gac>Aac	p.D5553N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2214N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6480	Ig-like 36.						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)			TGCCGCTTGTCTTTGTACCAT	0.428000														32			20		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151018346	151018346	+	Missense_Mutation	SNP	C	T	T	rs150851524		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:151018346C>T	uc001ewl.2	+	7	1098	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	BNIPL_uc009wmi.2_Missense_Mutation_p.R227W|BNIPL_uc009wmj.2_Non-coding_Transcript|C1orf56_uc021oyi.1_5'Flank|C1orf56_uc001ewn.3_5'Flank	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	309	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCACTGCTTCGGCCCTTCAT	0.443000														114			62		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125727714	125727714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:125727714G>A	uc003eij.3	-	9	1341	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	SLC41A3_uc003eii.3_Missense_Mutation_p.S346F|SLC41A3_uc003eil.3_Missense_Mutation_p.S372F|SLC41A3_uc003eik.3_Missense_Mutation_p.S336F|SLC41A3_uc011bkh.2_Missense_Mutation_p.S255F	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	372						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGCTGACATGGAATTGATTTC	0.498000														48			29		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54793064	54793064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:54793064C>T	uc021smr.1	+	19	5183	c.5183C>T	c.(5182-5184)tCt>tTt	p.S1728F	UNC13C_uc021sms.1_Missense_Mutation_p.S1730F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1730	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCTCTCTTTTCTTGCTCCGTG	0.428000														33			17		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336985	151336985	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:151336985G>A	uc010ntk.1	-	9	1434	c.1194C>T	c.(1192-1194)atC>atT	p.I398I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	398					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|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGTCCCCACGATGTTGAAGG	0.517000														16			78		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86506257	86506257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:86506257G>A	uc004ana.3	-	5	1906	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	KIF27_uc010mpw.3_Missense_Mutation_p.H588Y|KIF27_uc010mpx.3_Missense_Mutation_p.H588Y	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	588					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCCCCAAATGAGTATCAAAT	0.373000														11			48		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56755209	56755209	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:56755209G>C	uc001xch.3	+	3	650	c.364G>C	c.(364-366)Ggc>Cgc	p.G122R		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	122					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACGATTTCTGGCAGCCAGAA	0.498000														16			5		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34324132	34324132	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:34324132C>T	uc021uiv.1	+	22	4114	c.4017C>T	c.(4015-4017)atC>atT	p.I1339I	FHOD3_uc002kzs.1_Silent_p.I1164I|FHOD3_uc002kzt.1_Silent_p.I1147I|FHOD3_uc010dmz.1_Silent_p.I879I|FHOD3_uc010dnb.1_Silent_p.I143I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1147					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCGGAGATCGGGGCCATCA	0.562000														33			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060828	9060828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9060828G>A	uc002mkp.3	-	2	26822	c.26618C>T	c.(26617-26619)tCt>tTt	p.S8873F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8875	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTACTCTCAGATGGTGTGGA	0.507000														69			39		0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44096470	44096470	+	Missense_Mutation	SNP	C	T	T	rs145524590		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:44096470C>T	uc003tjp.4	+	4	540	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	DBNL_uc003tjo.4_Missense_Mutation_p.R148C|DBNL_uc003tjq.4_Missense_Mutation_p.R148C|DBNL_uc011kbm.2_Missense_Mutation_p.R123C|DBNL_uc011kbo.2_Missense_Mutation_p.R48C|DBNL_uc011kbp.2_Intron|DBNL_uc011kbq.2_Missense_Mutation_p.R73C|DBNL_uc011kbn.2_Missense_Mutation_p.R45C|DBNL_uc011kbr.2_Missense_Mutation_p.R96C|DBNL_uc011kbs.2_Missense_Mutation_p.R45C	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	148					Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGAGAGTGGCCGCTTCCAGGA	0.617000														80			13		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6596446	6596446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:6596446C>T	uc002gdj.3	-	8	1280	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	SLC13A5_uc010clq.3_Missense_Mutation_p.D355N|SLC13A5_uc002gdk.3_Missense_Mutation_p.D381N|SLC13A5_uc010vtf.2_Missense_Mutation_p.D398N	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	398						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACCTTCCAATCCAGCAGGGGA	0.517000														30			19		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711862	151711862	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:151711862G>A	uc003wkp.3	+	7	1430	c.1160G>A	c.(1159-1161)tGg>tAg	p.W387*	GALNTL5_uc010lqf.3_Nonsense_Mutation_p.W276*|GALNTL5_uc003wkq.3_Nonsense_Mutation_p.W138*|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	387						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTGCACGTTTGGCTGGATGAA	0.473000														15			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067275	9067275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9067275G>A	uc002mkp.3	-	2	20375	c.20171C>T	c.(20170-20172)tCc>tTc	p.S6724F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6726	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGCCAAGGGAGATAGGCAG	0.483000														210			93		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3553521	3553521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:3553521C>T	uc002wim.2	+	11	2105	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATRN_uc002wil.2_Missense_Mutation_p.S672L|ATRN_uc021vzz.1_Missense_Mutation_p.S556L	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	672					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S672L(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AACACAGGGTCGTCTCAGTGT	0.448000														49			16		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058501	79058501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:79058501G>A	uc002bej.4	-	18	3963	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1251					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1251S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACTAGGAGAGGAGTGGGTGCT	0.657000														10			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422812	26422812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26422812G>A	uc003abz.1	+	42	7122	c.6872G>A	c.(6871-6873)aGg>aAg	p.R2291K	MYO18B_uc003aca.1_Missense_Mutation_p.R2172K|MYO18B_uc010guy.1_Missense_Mutation_p.R2173K|MYO18B_uc010guz.1_Missense_Mutation_p.R2171K|MYO18B_uc011aka.1_Missense_Mutation_p.R1445K|MYO18B_uc011akb.1_Missense_Mutation_p.R1804K|MYO18B_uc010gva.1_Missense_Mutation_p.R274K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2291						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.L2290L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACACTAAGGAGGGGCAGGGCT	0.642000														3			32		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625544	73625544	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73625544C>T	uc010dgl.3	-	15	2168	c.1959G>A	c.(1957-1959)aaG>aaA	p.K653K	RECQL5_uc010dgk.3_Silent_p.K626K|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	653					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCCCACCCGCTTGGGTTTGA	0.622000								Other identified genes with known or suspected DNA repair function						26			22		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575478	12575478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:12575478G>A	uc002mtv.4	-	3	1419	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	ZNF709_uc002mtw.4_Missense_Mutation_p.H388Y|ZNF709_uc002mtx.4_Missense_Mutation_p.H420Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTACATTCATGGGGTTTCTCT	0.418000														69			23		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485983	42485983	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:42485983C>T	uc002osh.3	-	10	1347	c.1193_splice	c.e10-1	p.G398_splice	ATP1A3_uc010xwf.2_Splice_Site_p.G409_splice|ATP1A3_uc010xwg.2_Splice_Site_p.G368_splice|ATP1A3_uc002osg.3_Splice_Site_p.G398_splice|ATP1A3_uc010xwh.2_Splice_Site_p.G411_splice			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	398					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AAATGAGGTCCCTGGGGGAGG	0.632000														62			25		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228678	21228678	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:21228678G>A	uc002red.3	-	25	11190	c.11062C>T	c.(11062-11064)Cta>Tta	p.L3688L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3688					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)	TCCAGCTTTAGGAAATCCCAT	0.433000														417			216		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028727	42028727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:42028727C>T	uc010ucy.2	+	12	4446	c.4265C>T	c.(4264-4266)tCc>tTc	p.S1422F	MGA_uc010ucz.2_Missense_Mutation_p.S1422F|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1422						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGTCCATTGTCCCCTGGGAAA	0.468000														25			22		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726770	32726770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32726770C>T	uc003obz.2	-	2	586	c.503G>A	c.(502-504)gGt>gAt	p.G168D	HLA-DQB2_uc003oby.4_Missense_Mutation_p.G168D	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	168					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane		p.A167T(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GGACACAACACCGGCTGTCTC	0.542000														85			18		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83816953	83816953	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:83816953G>A	uc010vns.2	+	13	2415	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	CDH13_uc002fgx.3_Silent_p.T670T|CDH13_uc010vnt.2_Silent_p.T416T|CDH13_uc010vnu.2_Silent_p.T631T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	670					Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACCCATGACGAATATCACAG	0.522000														53			24		0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:190878646G>T	uc003izs.3	+	5	717	c.526G>T	c.(526-528)Gaa>Taa	p.E176*		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000														11			5		0.000602214	0.000604062	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														29			26		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412282	14412282	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:14412282C>G	uc003wwq.3	-	1	853	c.193G>C	c.(193-195)Gcc>Ccc	p.A65P	SGCZ_uc010lss.3_Missense_Mutation_p.A52P	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	52					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.A65A(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGTCATGGCTAAGTTAACT	0.378000														47			50		0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26046004	26046004	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:26046004C>T	uc003nfv.3	+	0	366	c.366C>T	c.(364-366)ccC>ccT	p.P122P	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	122				P -> L (in Ref. 13; AAH66884).	S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.M121L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCATCATGCCCAAAGATATCC	0.537000														72			22		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57302486	57302486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:57302486G>A	uc003dio.3	+	20	2101	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	APPL1_uc011bey.1_Missense_Mutation_p.E635K|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	652	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		gcaacagaaagaactcaataa	0.308000														7			6		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315760	12315760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:12315760G>A	uc001mkg.1	+	2	1073	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	261					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.R261Q(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAAGGGGAGCGAAACGTGCCT	0.642000														1			25		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410366	32410366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32410366G>A	uc003obh.3	+	1	333	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	HLA-DRA_uc003obi.3_Missense_Mutation_p.R75Q	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	75	Alpha-1.			R -> P (in Ref. 12; AA sequence).	T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GAATTTGGACGATTTGCCAGC	0.473000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					181			69		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105279	100105279	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:100105279T>A	uc004egj.3	-	8	1200	c.994A>T	c.(994-996)Atc>Ttc	p.I332F	NOX1_uc004egl.4_Missense_Mutation_p.I332F|NOX1_uc010nne.3_Missense_Mutation_p.I295F	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	332	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGGAGAGAGATTGAGGGGCAA	0.458000														5			12		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741865	142741865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:142741865C>T	uc003evh.1	+	11	1288	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	U2SURP_uc003evi.1_Silent_p.L2L|U2SURP_uc011bnj.1_Missense_Mutation_p.P397S|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.P396S|U2SURP_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	397	Pro-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CCCTAATGCTCCTATGTTACC	0.423000														8			5		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032504	65032504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:65032504C>T	uc002eoi.3	-	3	918	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.E162K|CDH11_uc010vin.2_Missense_Mutation_p.E36K|CDH11_uc010vio.1_Missense_Mutation_p.E162K	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	162	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGATAGGTCTCGTGCAGGAAC	0.597000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				68			40		0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278172	7278172	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:7278172T>A	uc003srb.2	+	2	730	c.507T>A	c.(505-507)gaT>gaA	p.D169E	C1GALT1_uc003sra.3_Missense_Mutation_p.D169E|C1GALT1_uc010kto.2_Missense_Mutation_p.D169E	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	169					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGAAAGCAGATGATGACACGT	0.353000														36			7		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541467	28541467	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28541467G>A	uc003nlo.3	-	3	2817	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	733					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F733F(2)		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						atttccgagtgaaactagcat	0.338000														29			35		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10570295	10570295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:10570295C>T	uc002moj.2	+	9	1333	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	PDE4A_uc021uow.1_Missense_Mutation_p.R387C|PDE4A_uc002mok.2_Missense_Mutation_p.R383C|PDE4A_uc002mol.2_Missense_Mutation_p.R348C|PDE4A_uc002mom.2_Missense_Mutation_p.R170C|PDE4A_uc002moo.2_Missense_Mutation_p.R75C	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	p.D408N(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAGAAATTCCGCATCCCTGT	0.637000														15			21		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599273	247599273	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:247599273T>C	uc001icr.3	+	8	2637	c.2499_splice	c.e8-1	p.W833_splice	NLRP3_uc001ics.3_Intron|NLRP3_uc001icu.3_Splice_Site_p.W833_splice|NLRP3_uc001icw.3_Splice_Site_p.W776_splice|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Splice_Site_p.W811_splice	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	833					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTATGGAAGGTTGGTCAGCTG	0.527000														62			36		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108064	168108064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:168108064G>A	uc002udx.3	+	8	10251	c.10162G>A	c.(10162-10164)Gac>Aac	p.D3388N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D3213N|XIRP2_uc010fpq.3_Missense_Mutation_p.D3166N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3213					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGTTTTACAGACTTTTCTTG	0.388000														63			67		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48608750	48608750	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48608750C>T	uc010wmr.2	+	18	3078	c.2916C>T	c.(2914-2916)ccC>ccT	p.P972P	MYCBPAP_uc002iqz.3_Non-coding_Transcript|EPN3_uc002ira.4_5'Flank|EPN3_uc010wms.2_5'Flank|EPN3_uc010wmt.2_5'Flank	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	935					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCTCAGCCCCATAAAGAATG	0.522000														21			17		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494436	71494436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:71494436G>A	uc003kbw.4	+	4	5495	c.5254G>A	c.(5254-5256)Gat>Aat	p.D1752N	MAP1B_uc010iyw.1_Missense_Mutation_p.D1769N|MAP1B_uc010iyx.1_Missense_Mutation_p.D1626N|MAP1B_uc010iyy.1_Missense_Mutation_p.D1626N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1752						microtubule|microtubule associated complex	structural molecule activity	p.S1751S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACTCTATCCGATGTTGCTCC	0.483000														62			59		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958655	88958655	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:88958655C>T	uc002fmm.2	-	3	907	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CBFA2T3_uc002fml.2_Silent_p.L120L|CBFA2T3_uc010cif.1_Silent_p.L145L|CBFA2T3_uc002fmn.2_Silent_p.L181L	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	206	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AACTCACCACCAGGCCCAGCA	0.612000			T	RUNX1	AML									23			27		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886109	57886109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:57886109C>T	uc001nml.1	-	0	808	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTTTGTCTTCCTCCAGAGAT	0.458000														7			42		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417743	150417743	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:150417743C>T	uc003whq.3	+	2	791	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGCACAAGGGCGCCCATTACT	0.697000														2			10		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519695	131519695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:131519695C>T	uc021voy.1	+	0	50	c.50C>T	c.(49-51)tCc>tTc	p.S17F	FAM123C_uc002trw.2_Missense_Mutation_p.S17F|FAM123C_uc010fmv.2_Missense_Mutation_p.S17F|FAM123C_uc010fms.1_Missense_Mutation_p.S17F|FAM123C_uc010fmt.1_Missense_Mutation_p.S17F|FAM123C_uc010fmu.1_Missense_Mutation_p.S17F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	17										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGCAGGTTTCCCACGAGAAA	0.617000														15			15		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892184	101892184	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:101892184C>T	uc003uys.4	+	23	4540	c.4413C>T	c.(4411-4413)ttC>ttT	p.F1471F	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.F1460F	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1460					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGCCTTTTCGGCCTCCCCG	0.746000														4			7		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23048909	23048909	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:23048909C>A	uc001yvc.3	-	4	935	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	NIPA1_uc001yvd.3_Missense_Mutation_p.G134W|NIPA1_uc001yve.3_Missense_Mutation_p.G229W	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	304					cell death	early endosome|integral to membrane|plasma membrane		p.G304G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGGACAATCCCCACGGAGACG	0.507000														12			16		3.45872e-05	3.48e-05	1	1	0
PSMD3	5709	broad.mit.edu	37	17	38151308	38151308	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:38151308C>T	uc002htn.1	+	6	1247	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.F262F	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	361	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TGCCCTATTTCCTTCTGACTC	0.587000														79			62		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640050	207640050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:207640050C>T	uc001hfw.3	+	1	357	c.238C>T	c.(238-240)Cct>Tct	p.P80S	CR2_uc001hfv.3_Missense_Mutation_p.P80S|CR2_uc009xch.3_Missense_Mutation_p.P80S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	80	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TAAACCTGCTCCTAAATGTGA	0.403000														50			35		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156526411	156526411	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156526411A>G	uc001fpf.3	-	11	1279	c.1204T>C	c.(1204-1206)Tgc>Cgc	p.C402R	IQGAP3_uc009wsb.1_Missense_Mutation_p.C359R	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	402					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTCAGGGCACATCAGCTCC	0.602000														41			22		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														47			32		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22167174	22167174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22167174C>T	uc010vbq.2	+	32	3602	c.3506C>T	c.(3505-3507)tCc>tTc	p.S1169F	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.S247F|VWA3A_uc010bxe.1_Missense_Mutation_p.S271F	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1169						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCACCAGATCCCAACTCCAG	0.532000														27			38		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674964	49674964	+	Missense_Mutation	SNP	G	A	A	rs145771389	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:49674964G>A	uc002pmw.3	+	7	1096	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	TRPM4_uc010emu.3_Missense_Mutation_p.E330K|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.E156K|TRPM4_uc010emv.3_Missense_Mutation_p.E215K|TRPM4_uc010yal.2_Missense_Mutation_p.E47K	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	330					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAGGCAAGGCGAAGCCCGAGA	0.642000														32			36		0	0	1	0	0
DNAJC24	120526	broad.mit.edu	37	11	31436427	31436427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:31436427G>A	uc001msx.3	+	2	297	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	DNAJC24_uc001msw.1_Missense_Mutation_p.E60K|DNAJC24_uc009yjm.3_Missense_Mutation_p.E60K	NM_181706	NP_859057	Q6P3W2	DJC24_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 24 (DNAJC24), mRNA.	60	J.				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	p.E61K(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GAAGTTCATCGAAATTGATCA	0.448000														3			26		0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172579019	172579020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:172579019_172579020CC>TT	uc001giq.4	+	23	3701_3702	c.3385_3386CC>TT	c.(3385-3387)ccc>TTc	p.P1129F	C1orf9_uc009wwd.3_Missense_Mutation_p.P1085F|C1orf9_uc010pmn.2_Missense_Mutation_p.P758F|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	1129					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACCATTGCACCCCATAGCCAAT	0.371000														67			22		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135452	126135452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:126135452G>A	uc001uhe.1	+	6	1860	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D130N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	618						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCAGTTACAGGACGGCAGGAC	0.597000														25			18		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94744970	94744970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:94744970C>T	uc001ycs.1	+	24	2766	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	871						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCCAGAAAATCCAATCCTTAA	0.408000														7			10		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384232	20384232	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:20384232G>A	uc002dhc.1	-	6	1033	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	270					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.I269M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTGCAACTCGGAAATCAGAT	0.458000														47			22		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:41306689C>T	uc002xkg.3	-	6	1154	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_uc010ggj.3_Missense_Mutation_p.E324K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000														46			59		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171485	77171485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:77171485C>T	uc010xfg.2	+	1	1663	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	NFATC1_uc002lnc.1_Missense_Mutation_p.P404S|NFATC1_uc010xff.1_Missense_Mutation_p.P404S|NFATC1_uc002lnd.3_Missense_Mutation_p.P404S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P404S|NFATC1_uc010xfi.1_Missense_Mutation_p.P391S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P391S|NFATC1_uc002lng.3_Missense_Mutation_p.P391S|NFATC1_uc010xfk.2_Missense_Mutation_p.P391S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	404					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCCCTGTCCCCTACGTCCTA	0.731000														4			6		0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556354	1556354	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:1556354G>A	uc010dsn.3	-	1	1164	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	MEX3D_uc021uml.1_Silent_p.A388A	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	Homo sapiens mex-3 homolog D (C. elegans) (MEX3D), transcript variant 1, mRNA.	388					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGAGGCCGGCCGTGGCCG	0.801000														3			12		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:37028483G>A	uc002rpl.3	+	12	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_uc002rpm.3_Silent_p.T351T|VIT_uc010ezv.3_Silent_p.T329T|VIT_uc010ezw.3_Silent_p.T330T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000														92			115		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008840	120008840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:120008840C>T	uc011muc.2	-	0	940	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	229										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						gcggcctcctctgGGGGTTTC	0.701000														8			72		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916990	25916990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:25916990G>A	uc011dkb.2	-	6	936	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	SLC17A2_uc011dkc.2_Missense_Mutation_p.H285Y|SLC17A2_uc003nfl.3_Missense_Mutation_p.H285Y			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	285					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AACCAGAAATGGCTGAAAAAA	0.448000														77			46		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798181	113798181	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113798181G>A	uc001vsx.3	+	5	576	c.519G>A	c.(517-519)ggG>ggA	p.G173G	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G173G	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	173					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCCTGTGGGAAACAGACCC	0.627000														131			25		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861301	52861301	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:52861301G>A	uc003gzi.3	-	3	1894	c.1887C>T	c.(1885-1887)tcC>tcT	p.S629S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	629						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCAAATCAATGGATGAACTCA	0.522000														37			19		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650545	55650545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:55650545C>T	uc004duo.3	+	0	713	c.401C>T	c.(400-402)tCc>tTc	p.S134F		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	134					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCCATCTTCCTCCAGTGAG	0.507000														4			16		0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111420398	111420398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:111420398C>T	uc001plr.1	+	3	799	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	LAYN_uc001plp.1_Missense_Mutation_p.H147Y|LAYN_uc010rwg.1_Intron|LAYN_uc010rwh.2_Missense_Mutation_p.H3Y	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	155	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GGTCATGTACCATCAGCCATC	0.532000														8			37		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36572471	36572471	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:36572471A>G	uc002odd.2	+	10	1462	c.1371_splice	c.e10+1	p.N457_splice	WDR62_uc002odc.2_Splice_Site_p.N457_splice	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	457					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTTCAGCAATGTGAGTGGC	0.473000														50			30		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407127	55407127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:55407127C>T	uc003jqu.3	-	9	1600	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	ANKRD55_uc003jqt.3_Missense_Mutation_p.R195K	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	482										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCAGCCAGTTCTGTTATTTAA	0.458000														56			42		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:164767590G>A	uc003fei.3	-	13	1649	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P528L(1)|p.P529P(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGAGTAAACGGTGGATAATT	0.279000										HNSCC(35;0.089)				25			26		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763361	5763361	+	Silent	SNP	G	A	A	rs149797529	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:5763361G>A	uc003zjl.4	+	17	2414	c.2223G>A	c.(2221-2223)ccG>ccA	p.P741P	KIAA1432_uc003zjh.3_Silent_p.P699P|KIAA1432_uc003zji.3_Silent_p.P699P|KIAA1432_uc003zjj.1_Silent_p.P241P	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	778						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ACATTTACCCGCTAGCTGTTC	0.473000														16			165		0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028647	100028647	+	Silent	SNP	C	T	T	rs140364891		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:100028647C>T	uc003uuw.3	+	0	1394	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	336							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCATCTGCTCTGCAGGGTCC	0.612000														40			123		0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5922207	5922207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:5922207C>T	uc003spe.4	+	1	237	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	49	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GGATGTTTTCCGGTTCATAGA	0.493000														75			12		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36656027	36656027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:36656027G>A	uc022abu.1	-	10	1206	c.805C>T	c.(805-807)Cac>Tac	p.H269Y	AOAH_uc003tfh.4_Missense_Mutation_p.H269Y|AOAH_uc011kba.2_Missense_Mutation_p.H237Y	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	269					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H269Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGAGAGATGTGAAAATGAGCC	0.433000														6			14		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968229	18968229	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18968229T>G	uc002nkg.3	+	14	2377	c.2102T>G	c.(2101-2103)gTg>gGg	p.V701G	UPF1_uc002nkf.3_Missense_Mutation_p.V690G|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	701					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGCCTGGTGGTGCTGGGCATC	0.637000														41			18		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88260223	88260223	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:88260223G>A	uc001kdn.3	-	3	915	c.906C>T	c.(904-906)ccC>ccT	p.P302P	WAPAL_uc001kdo.3_Silent_p.P259P|WAPAL_uc009xsw.3_Silent_p.P259P	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	259	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.K301T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCTCCAAAAGGGGATCACTAT	0.358000														38			26		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502518	90502518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:90502518G>A	uc004app.4	+	3	3151	c.3116G>A	c.(3115-3117)gGg>gAg	p.G1039E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1039						integral to membrane											CTGAAAGTGGGGGAGAAGCCC	0.607000														12			96		0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042400	100042400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:100042400C>T	uc001tgn.3	+	0	873	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	150										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTTTTTATCTTCAGCTGTG	0.468000														25			13		0	0	1	0	0
DLX5	1749	broad.mit.edu	37	7	96650104	96650104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:96650104G>A	uc003uon.3	-	2	1022	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S		NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	272					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCCGGCGGCGGCAGGTGGGAA	0.587000														20			43		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374648	163374648	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:163374648A>T	uc002uch.2	-	3	713	c.484T>A	c.(484-486)Ttc>Atc	p.F162I	KCNH7_uc002uci.3_Missense_Mutation_p.F162I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGACCAGGGAATTTGAACCCA	0.383000														40			36		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369458	56369458	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:56369458C>T	uc002qmd.4	+	2	1121	c.699C>T	c.(697-699)ttC>ttT	p.F233F	NLRP4_uc002qmf.3_Silent_p.F158F|NLRP4_uc010etf.3_Silent_p.F64F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	233	NACHT.						ATP binding	p.F233F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCGACAGCTTCGAAGAGCTGC	0.547000														41			55		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141754	29141754	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:29141754C>T	uc011dlm.2	+	0	444	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CAGAGTGTGTCCTACTGGTGG	0.488000														153			274		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48426627	48426627	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:48426627C>T	uc001jfb.3	-	2	1808	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	GDF10_uc009xnp.3_Silent_p.R459R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	460					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GAACCACATTCCGATTCTCAT	0.587000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			65		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953950	17953950	+	Missense_Mutation	SNP	G	A	A	rs55778349	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:17953950G>A	uc002nhn.4	-	4	552	c.452C>T	c.(451-453)cCc>cTc	p.P151L	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.P151L|JAK3_uc010xpx.1_Missense_Mutation_p.P151L|JAK3_uc010xpy.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	151	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		P -> R (in T(-)B(+)NK(-) SCID; dbSNP:rs55778349).		B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P151R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAGGCCCACGGGGAGGCGCCC	0.677000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									13			10		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39234686	39234686	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39234686C>T	uc002ojd.1	-	0	429	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	40					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCCGAATCCAGGCAGGCTG	0.647000														37			37		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806795	143806795	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:143806795G>A	uc011ktz.2	+	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G40E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGCTGGGGAATGGGGTCA	0.512000														90			17		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	1998937	1998937	+	Silent	SNP	C	T	T	rs140335541	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:1998937C>T	uc003wpx.4	+	1	195	c.57C>T	c.(55-57)tcC>tcT	p.S19S	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	19					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGACCAGTCCTACCGTAATA	0.493000														36			15		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100874047	100874047	+	Silent	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:100874047G>T	uc003yiv.3	+	57	11274	c.11163G>T	c.(11161-11163)cgG>cgT	p.R3721R	VPS13B_uc003yiw.3_Silent_p.R3696R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3721					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCTGGCCCGGAACATGGACC	0.632000														12			6		1.26484e-09	1.27787e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047238	9047238	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:9047238T>C	uc002mkp.3	-	4	34597	c.34393A>G	c.(34393-34395)Atc>Gtc	p.I11465V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11467	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAACTGATGACCAGTGAG	0.493000														59			90		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942268	6942268	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:6942268G>A	uc010rav.2	+	0	36	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGGTAAACAGGCAAAAATAT	0.403000														0			25		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245788	167245788	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:167245788G>A	uc003fev.1	-	10	1672	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	WDR49_uc003feu.1_Silent_p.S281S|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	456										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGTTCTTACTGGAGTTAAGAC	0.373000														43			17		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821463	26821463	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:26821463A>G	uc010wan.2	+	8	1455	c.1388A>G	c.(1387-1389)aAc>aGc	p.N463S	SLC13A2_uc010wam.2_Missense_Mutation_p.N370S|SLC13A2_uc002hbh.3_Missense_Mutation_p.N414S|SLC13A2_uc010wao.2_Missense_Mutation_p.N371S|SLC13A2_uc002hbi.3_Missense_Mutation_p.N343S	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	414						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAGACGGTGAACCAGAAGATG	0.582000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			36		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716704	39716704	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:39716704G>A	uc001wux.3	+	3	1120	c.926G>A	c.(925-927)tGg>tAg	p.W309*	MIA2_uc010amy.2_Nonsense_Mutation_p.W240*	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	309						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCCACTGGTTGGTTTGGTGGA	0.413000														32			21		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62396711	62396711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:62396711G>A	uc001nua.3	-	16	1990	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	GANAB_uc001nub.3_Missense_Mutation_p.P631S|GANAB_uc001nuc.3_Missense_Mutation_p.P534S|GANAB_uc010rma.2_Missense_Mutation_p.P539S|GANAB_uc010rmb.2_Missense_Mutation_p.P517S	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	631					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGACACATAGGAATAGAGATC	0.532000														5			42		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746787	3746787	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:3746787G>A	uc010xhv.2	+	16	2334	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	TJP3_uc010xhs.2_Silent_p.L745L|TJP3_uc010xht.2_Silent_p.L709L|TJP3_uc010xhu.2_Silent_p.L754L|TJP3_uc010xhw.2_Silent_p.L764L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	759						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCCCTCTGAATGGCACGA	0.642000														5			9		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71129366	71129366	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:71129366C>T	uc001jpl.4	+	6	962	c.861C>T	c.(859-861)aaC>aaT	p.N287N	HK1_uc001jpg.4_Silent_p.N275N|HK1_uc001jph.4_Silent_p.N291N|HK1_uc001jpi.4_Silent_p.N291N|HK1_uc001jpj.4_Silent_p.N322N|HK1_uc001jpk.4_Silent_p.N286N|HK1_uc009xqd.3_Silent_p.N165N	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	287	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.R287L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GATCCCTCAACCCTGGAAAAC	0.463000														15			9		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623772	28623772	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:28623772C>T	uc001urw.3	-	7	964	c.882_splice	c.e7+1	p.E294_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.E294_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	294	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTATTACCTCCTCGAGTG	0.383000			"""Mis, O"""		"""AML, ALL"""									114			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518850	106518850	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:106518850C>T	uc021ser.1	-	2194		c.39204G>A								Parts of antibodies, mostly variable regions.																		AGCCCCAATTCCATGGTGAGT	0.498000														71			41		0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122359598	122359598	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:122359598G>T	uc003kth.3	-	4	716	c.611C>A	c.(610-612)cCt>cAt	p.P204H		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	204					protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.P204L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AACCACAAAAGGCGTTTTCAC	0.498000														70			59		5.73332e-34	5.85873e-34	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13700953	13700953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:13700953C>T	uc003jfd.2	-	77	13561	c.13519G>A	c.(13519-13521)Gct>Act	p.A4507T	DNAH5_uc003jfc.2_Missense_Mutation_p.A675T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4507					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)					TTGTCCAGAGCCCAGCCTTTG	0.438000									Kartagener syndrome					38			30		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563708	22563708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:22563708C>T	uc002wsm.3	-	1	357	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	FOXA2_uc002wsn.3_Missense_Mutation_p.G52S	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	52	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GAGCCGCTGCCCATGGCGGCC	0.682000														74			31		0	0	1	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882730	143882730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:143882730G>A	uc010lpc.3	+	0	2183	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	712	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						GGATACAAGGGGCCCGTTCAT	0.527000														96			25		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102257436	102257436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:102257436G>A	uc001krc.1	-	15	2080	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	SEC31B_uc010qpo.1_Missense_Mutation_p.P659S|SEC31B_uc001krd.1_Missense_Mutation_p.P197S|SEC31B_uc001krf.1_Missense_Mutation_p.P197S|SEC31B_uc001kre.1_Missense_Mutation_p.P197S|SEC31B_uc001krg.1_Missense_Mutation_p.P229S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	660					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane		p.P660P(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CAGAGCTCGGGAAATTTCTCT	0.512000														21			19		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99359856	99359856	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:99359856C>T	uc001kny.3	+	4	995	c.636C>T	c.(634-636)acC>acT	p.T212T	PI4K2A_uc001knx.2_3'UTR|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTCACAAGACCAGGAAGCAGG	0.552000														92			53		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098425	38098425	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:38098425C>T	uc002yvr.2	+	5	605	c.549C>T	c.(547-549)atC>atT	p.I183I	SIM2_uc002yvq.3_Silent_p.I183I	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	183				IH -> RI (in Ref. 7; BAA07909).	cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCCAGGTCATCCACTGCAGTG	0.577000														67			51		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573820	28573820	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:28573820C>T	uc003xgz.1	+	2	837	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	82						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGTGCTGGATCTGTGCCGCAT	0.587000														19			41		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285573	48285573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:48285573C>T	uc010rht.2	+	0	161	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAAGTGCTCACCTCCCCCATG	0.488000														7			26		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40126847	40126847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:40126847G>A	uc002xka.1	-	6	1113	c.935C>T	c.(934-936)cCg>cTg	p.P312L	CHD6_uc002xkd.2_Missense_Mutation_p.P290L|CHD6_uc002xkc.3_Missense_Mutation_p.P347L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	312	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTCGAACGGAGGTTCTCC	0.383000														29			10		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225718286	225718286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:225718286G>A	uc001hpc.1	-	3	857	c.404C>T	c.(403-405)cCa>cTa	p.P135L	ENAH_uc021pju.1_Missense_Mutation_p.P122L|ENAH_uc001hpd.1_Missense_Mutation_p.P135L	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	135					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTCTTGGGATGGGCCATTTTG	0.348000														92			96		0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39871305	39871305	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:39871305C>T	uc002olb.3	+	12	2763	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	SAMD4B_uc002ola.3_Silent_p.F576F	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	576							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCGGCAGTTCCCAATGCCTC	0.692000														21			29		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779982	91779982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:91779982C>T	uc010aty.3	-	14	2332	c.2178G>A	c.(2176-2178)atG>atA	p.M726I		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	726					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCCTCTCCATCTGTGCCA	0.612000														43			24		0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216184408	216184408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:216184408C>T	uc002vex.4	+	3	431	c.244C>T	c.(244-246)Cca>Tca	p.P82S	ATIC_uc010zjo.2_Missense_Mutation_p.P23S|ATIC_uc002vey.4_Missense_Mutation_p.P81S	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	82					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TCGTAATATTCCAGAAGATAA	0.313000			T	ALK	ALCL									41			13		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510246	16510246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:16510246G>A	uc003goz.3	-	6	1119	c.803C>T	c.(802-804)tCc>tTc	p.S268F	LDB2_uc003gpa.3_Missense_Mutation_p.S268F|LDB2_uc011bxh.2_Missense_Mutation_p.S240F|LDB2_uc003gpb.3_Missense_Mutation_p.S268F|LDB2_uc010iee.3_Missense_Mutation_p.S268F|LDB2_uc011bxi.2_Missense_Mutation_p.S144F	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	268							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGTTGGAAGTGCTGCT	0.498000														34			37		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653843	7653843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7653843G>A	uc001qsz.3	-	2	477	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	CD163_uc001qta.3_Missense_Mutation_p.H117Y|CD163_uc009zfw.2_Missense_Mutation_p.H117Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	117	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAAGAAACATGATCCATCCAA	0.483000														56			58		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225608	61225608	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61225608C>T	uc010xeo.2	+	1	192	c.192C>T	c.(190-192)tcC>tcT	p.S64S	SERPINB12_uc010xen.2_Silent_p.S64S	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	64					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACGAATTTTCCCAGAATGAAA	0.428000														46			29		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182468742	182468742	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:182468742C>T	uc002unx.3	-	1	404	c.303G>A	c.(301-303)gtG>gtA	p.V101V	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.V101V|CERKL_uc010zfm.2_Silent_p.V101V|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Silent_p.V101V|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Silent_p.V101V|CERKL_uc021vth.1_5'UTR|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_5'UTR|CERKL_uc002uod.2_5'UTR|CERKL_uc002uoe.3_Silent_p.V101V	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	101					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCAGTTTCACAGAGAATA	0.308000														10			13		0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797959	31797959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:31797959G>A	uc002yob.1	-	0	272	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTCAGGCAAGAATTGCAGAG	0.572000														25			37		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882291	43882291	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:43882291A>C	uc002xnm.1	-	1	191	c.169T>G	c.(169-171)Tgt>Ggt	p.C57G		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	57	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TTCCCTGGACACTGCCAGTCA	0.502000														57			37		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817665	1817665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:1817665G>A	uc010uvl.2	+	26	3458	c.3338G>A	c.(3337-3339)aGg>aAg	p.R1113K	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R1112K|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R1102K|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R1106K	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1112					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCACCCTGAGGCTCTACCAT	0.637000														27			23		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818473	26818473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:26818473C>T	uc010wan.2	+	4	807	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SLC13A2_uc010wal.1_Missense_Mutation_p.P155L|SLC13A2_uc010wam.2_Missense_Mutation_p.P154L|SLC13A2_uc002hbh.3_Missense_Mutation_p.P198L|SLC13A2_uc010wao.2_Missense_Mutation_p.P155L|SLC13A2_uc002hbi.3_Missense_Mutation_p.P127L	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	198						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGGCCCTCCCTGTCACGTCT	0.652000														35			17		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65104786	65104786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:65104786G>A	uc010wqk.2	-	29	4736	c.4549C>T	c.(4549-4551)Cag>Tag	p.Q1517*	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Nonsense_Mutation_p.Q1516*|HELZ_uc010der.3_Nonsense_Mutation_p.Q60*	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCCACTGCTGGAACCGTGCC	0.507000														49			36		0	0	1	0	0
PDHB	5162	broad.mit.edu	37	3	58417666	58417666	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:58417666C>A	uc003dkf.4	-	2	185	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PDHB_uc003dke.4_Nonsense_Mutation_p.E6*|PDHB_uc011bff.2_Nonsense_Mutation_p.E48*|PDHB_uc003dkg.4_Nonsense_Mutation_p.E30*	NM_000925	NP_000916	P11177	ODPB_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	TCATCTCTTTCCAGCTCCTCA	0.388000														22			23		3.28513e-13	3.33269e-13	1	1	0
XIST	7503	broad.mit.edu	37	X	73064757	73064757	+	RNA	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:73064757G>A	uc004ebm.1	-	0		c.7832C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGAAGGGAAAGGAAGATTGAG	0.507000														10			42		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256641	98256641	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:98256641C>T	uc003upl.2	+	3	1230	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	351	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672000														31			4		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687808	11687808	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:11687808C>T	uc002gne.3	+	40	8081	c.8013C>T	c.(8011-8013)atC>atT	p.I2671I	DNAH9_uc010coo.3_Silent_p.I1965I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2671	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACAGGAATCAAATTCCACT	0.512000														81			79		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582906	55582906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55582906G>A	uc010qhy.1	-	34	4996	c.4601C>T	c.(4600-4602)cCc>cTc	p.P1534L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1529L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1504L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1524L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1487L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1458L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1529L|PCDH15_uc010qia.1_Missense_Mutation_p.P1507L|PCDH15_uc001jju.1_Missense_Mutation_p.P1527L|PCDH15_uc010qib.1_Missense_Mutation_p.P1504L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1527					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATAAAGGGGATTATGGGC	0.368000										HNSCC(58;0.16)				41			32		0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174450277	174450277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:174450277G>A	uc003itg.1	-	0	254	c.164C>T	c.(163-165)cCc>cTc	p.P55L	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Missense_Mutation_p.P55L			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	55					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTAGTCGGGGGGCGACATCTC	0.746000														14			8		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667297	72667298	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:72667297_72667298GG>AA	uc011mqk.2	+	0	208_209	c.208_209GG>AA	c.(208-210)gga>AAa	p.G70K		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCGTCTCTGGGAGTCTGGGGC	0.599000														9			9		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744896	87744896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:87744896G>A	uc003hqd.2	-	5	1227	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	360						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GCAATCCATTGGCCCTGGTGG	0.542000														32			12		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14181703	14181703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:14181703C>T	uc003wwq.3	-	2	905	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SGCZ_uc010lss.3_Intron	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	69					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G82E(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCTCAGATTTCCCATACCATC	0.353000														22			33		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962649	69962649	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962649G>C	uc003heg.4	+	0	457	c.411G>C	c.(409-411)atG>atC	p.M137I	UGT2B7_uc010ihq.3_Missense_Mutation_p.M137I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	137					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAATTTATGAAAAAAGTAC	0.323000														24			23		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17772250	17772250	+	Silent	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:17772250A>G	uc003ncg.4	-	36	4525	c.4365T>C	c.(4363-4365)ccT>ccC	p.P1455P	KIF13A_uc003ncf.3_Silent_p.P1442P|KIF13A_uc003nch.4_Silent_p.P1455P|KIF13A_uc003nci.4_Silent_p.P1442P|KIF13A_uc003nce.2_Silent_p.P41P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1455					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCTTTAAAAGGGCTGACGG	0.443000														238			4		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240493991	240493991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:240493991G>A	uc010pye.2	+	11	4763	c.4538G>A	c.(4537-4539)gGa>gAa	p.G1513E	FMN2_uc010pyd.2_Missense_Mutation_p.G1509E|FMN2_uc010pyf.1_Missense_Mutation_p.G155E|FMN2_uc010pyg.2_Missense_Mutation_p.G105E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1509	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGACTCGAGGACAGGCAGAT	0.423000														30			32		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326282	54326282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:54326282C>T	uc003jpl.1	+	2	277	c.233C>T	c.(232-234)cCc>cTc	p.P78L		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGCCAGTCTCCCACTGTGGTT	0.438000														33			24		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202545672	202545672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:202545672C>T	uc002uyk.4	-	9	1026	c.818G>A	c.(817-819)gGg>gAg	p.G273E	MPP4_uc010ftj.3_Missense_Mutation_p.G273E|MPP4_uc010zhq.2_Missense_Mutation_p.G273E|MPP4_uc010zht.2_Missense_Mutation_p.G246E|MPP4_uc010zhr.2_Missense_Mutation_p.G273E|MPP4_uc010zhs.2_Missense_Mutation_p.G229E|MPP4_uc002uyj.4_Missense_Mutation_p.G229E|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G260E|MPP4_uc002uym.1_Missense_Mutation_p.G242E|MPP4_uc002uyn.3_Missense_Mutation_p.G229E	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	273	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GAGGATGTCCCCCTTCTGGAA	0.587000											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			32		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760987	20760987	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:20760987C>G	uc010gsm.3	+	5	1876	c.1664C>G	c.(1663-1665)tCg>tGg	p.S555W	ZNF74_uc002zsg.3_Missense_Mutation_p.S484W|ZNF74_uc002zsh.3_Missense_Mutation_p.S555W|ZNF74_uc002zsi.3_Missense_Mutation_p.S484W|ZNF74_uc010gsn.3_Missense_Mutation_p.S484W	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	555					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGAGAAGTCGTTTAAGTGT	0.552000														9			79		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166015	71166015	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:71166015A>G	uc002jje.3	+	1	917	c.557A>G	c.(556-558)aAc>aGc	p.N186S	SSTR2_uc021ucm.1_Missense_Mutation_p.N186S	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	186					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCCGGAGCAACCAGTGGGGG	0.557000														36			30		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121119	21121119	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:21121119G>A	uc002kum.4	-	15	2701	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	NPC1_uc010xaz.2_Silent_p.S542S|NPC1_uc010xba.1_Silent_p.S654S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	809					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGCCTGGACGCTTGTTCCAT	0.473000														32			24		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103889	53103889	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:53103889G>A	uc003tpz.3	+	0	541	c.525G>A	c.(523-525)cgG>cgA	p.R175R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	175								p.R175W(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716000														28			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101383	168101383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:168101383G>A	uc002udx.3	+	8	3570	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D986N|XIRP2_uc010fpq.3_Missense_Mutation_p.D939N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	986					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAGGTGGGGATGTTCGTAC	0.398000														43			13		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477560	74477560	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:74477560G>A	uc002sko.1	-	11	1565	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.S521S|SLC4A5_uc010ffc.1_Silent_p.S521S|SLC4A5_uc002skp.1_Silent_p.S457S|SLC4A5_uc002sks.1_Silent_p.S521S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	521						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGCAGAGATGGACTGAATGT	0.527000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			114		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182402939	182402939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:182402939C>T	uc002unx.3	-	13	1750	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.G524E|CERKL_uc010zfm.2_Missense_Mutation_p.G506E|CERKL_uc002unz.3_Missense_Mutation_p.G272E|CERKL_uc002uoa.3_Missense_Mutation_p.G455E|CERKL_uc002uob.3_Missense_Mutation_p.G272E|CERKL_uc002uoc.3_Missense_Mutation_p.G411E|CERKL_uc021vth.1_Missense_Mutation_p.G319E|CERKL_uc021vti.1_Missense_Mutation_p.G272E|CERKL_uc021vtj.1_Missense_Mutation_p.G227E|CERKL_uc021vtk.1_Missense_Mutation_p.G272E|CERKL_uc021vtl.1_Missense_Mutation_p.G227E|CERKL_uc021vtm.1_Missense_Mutation_p.G319E|CERKL_uc002uod.2_Missense_Mutation_p.G319E|CERKL_uc002unw.3_Missense_Mutation_p.G120E	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	550					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCCATGCTTCCTCCATAAAG	0.289000														27			12		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8517990	8517990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:8517990C>T	uc003zkk.3	-	20	2144	c.1401G>A	c.(1399-1401)atG>atA	p.M467I	PTPRD_uc003zkp.3_Missense_Mutation_p.M467I|PTPRD_uc003zkq.3_Missense_Mutation_p.M467I|PTPRD_uc003zkr.3_Missense_Mutation_p.M461I|PTPRD_uc003zks.3_Missense_Mutation_p.M457I|PTPRD_uc022bdj.1_Missense_Mutation_p.M464I	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	467	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATTGTGTTTCATCCAGTTGT	0.408000										TSP Lung(15;0.13)				7			105		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191500	152191500	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152191500G>A	uc001ezt.1	-	2	2681	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	869					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATGCTGACCATAGCTG	0.607000														59			69		0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99291553	99291553	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:99291553C>T	uc002sze.3	-	3	662	c.348G>A	c.(346-348)ttG>ttA	p.L116L	MGAT4A_uc010fil.3_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	116					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTTCATTTTTCAATAAATGAG	0.348000														40			39		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:70800608C>T	uc003tvy.3	+	1	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000														14			53		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232738	100232738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:100232738G>A	uc003hus.4	-	6	988	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	ADH1B_uc003hut.4_Missense_Mutation_p.L262F|ADH1B_uc011ceh.2_Missense_Mutation_p.L147F|ADH1B_uc011cei.1_Missense_Mutation_p.L262F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	302					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			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)	TTTATTGAGAGGTTCTGGGAA	0.473000														55			46		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936068	30936068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:30936068G>A	uc002nsu.1	+	1	1737	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	ZNF536_uc010edd.1_Missense_Mutation_p.M533I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M533I(2)		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)					GCATGGCCATGGAACATGGCT	0.602000														55			78		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941120	22941120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:22941120G>A	uc021urt.1	-	3	1746	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.343000														23			5		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855414	31855414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:31855414G>A	uc003nxz.1	-	14	1961	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P442S|EHMT2_uc011don.1_Missense_Mutation_p.P674S|EHMT2_uc003nya.1_Missense_Mutation_p.P617S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	651					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AACTGCCGAGGGTGGAAACGG	0.602000														646			128		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922053	24922053	+	Missense_Mutation	SNP	G	A	A	rs34629208	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:24922053G>A	uc001ywo.3	+	0	1513	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	347	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ATTGCTGTGGGATCGAGGTGA	0.577000														39			21		0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40196569	40196569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:40196569C>T	uc002omf.3	+	1	463	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	LGALS14_uc002omg.3_Intron	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	0	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCACAGGCTTCATTTGTGCAA	0.478000														50			66		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424264	56424264	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:56424264G>A	uc010ygg.2	-	4	944	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	307	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATAATAAACAGGAGCTTCTCT	0.448000														27			26		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189611995	189611995	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:189611995G>A	uc003fry.2	+	14	1836	c.1747_splice	c.e14-1	p.D583_splice	TP63_uc003frz.2_Splice_Site_p.R551_splice|TP63_uc010hzc.1_Splice_Site_p.R503_splice|TP63_uc003fsc.2_Splice_Site_p.D489_splice|TP63_uc003fsd.2_Splice_Site_p.R457_splice|TP63_uc021xir.1_Splice_Site_p.R409_splice|TP63_uc010hzd.1_Splice_Site_p.D404_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	583	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTGCACAGGATCTGGCAAG	0.493000										HNSCC(45;0.13)				30			20		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915925	127915925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:127915925G>A	uc010mwv.3	-	6	888	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PPP6C_uc004bpg.4_Missense_Mutation_p.P186S|PPP6C_uc010mww.3_Missense_Mutation_p.P164S|PPP6C_uc011lzr.2_Missense_Mutation_p.P39S	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	186					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CCTTTATGAGGAATTTCCTGA	0.433000														6			26		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587044	56587044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:56587044G>A	uc010xeg.2	+	2	1722	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ZNF532_uc002lhp.3_Missense_Mutation_p.A507T|ZNF532_uc002lho.3_Missense_Mutation_p.A509T|ZNF532_uc002lhr.3_Missense_Mutation_p.A507T|ZNF532_uc002lhs.3_Missense_Mutation_p.A507T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CGTGGTGCCGGCATCCAGCCT	0.582000														30			3		0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830229	231830229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:231830229C>T	uc010pxh.2	+	1	778	c.725C>T	c.(724-726)cCc>cTc	p.P242L	DISC1_uc010pwe.2_Missense_Mutation_p.P197L|DISC1_uc010pwf.2_Missense_Mutation_p.P197L|DISC1_uc010pwj.1_Missense_Mutation_p.P231L|DISC1_uc010pwk.1_Missense_Mutation_p.P231L|DISC1_uc010pwg.1_Missense_Mutation_p.P231L|DISC1_uc010pwh.1_Missense_Mutation_p.P197L|DISC1_uc010pwi.1_Missense_Mutation_p.P197L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.P242L|DISC1_uc010pwo.2_Missense_Mutation_p.P242L|DISC1_uc010pwq.2_Missense_Mutation_p.P242L|DISC1_uc010pwr.1_Missense_Mutation_p.P242L|DISC1_uc010pws.1_Missense_Mutation_p.P242L|DISC1_uc010pwt.1_Missense_Mutation_p.P242L|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.P242L|DISC1_uc001huy.3_Missense_Mutation_p.P242L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.P242L|DISC1_uc010pxc.1_Missense_Mutation_p.P242L|DISC1_uc010pxe.2_Missense_Mutation_p.P242L|DISC1_uc010pxf.2_Missense_Mutation_p.P242L|DISC1_uc010pxg.2_Missense_Mutation_p.P242L|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.P197L|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.P242L|DISC1_uc001huz.3_Missense_Mutation_p.P242L|DISC1_uc001hva.3_Missense_Mutation_p.P242L|DISC1_uc010pwm.2_Missense_Mutation_p.P242L|DISC1_uc001hvc.3_Missense_Mutation_p.P242L|DISC1_uc010pwn.1_Missense_Mutation_p.P242L|DISC1_uc021pkn.1_Missense_Mutation_p.P242L|DISC1_uc001hux.1_Missense_Mutation_p.P242L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	242	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding	p.S241C(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCAGAGCCCCCAGGAGATG	0.612000														46			14		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323387	152323387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:152323387C>T	uc001ezw.4	-	2	6948	c.6875G>A	c.(6874-6876)gGg>gAg	p.G2292E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2292							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTCTCCCATGAACTGT	0.493000														158			132		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093563	69093563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:69093563C>T	uc002sez.1	-	1	634	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	159					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCTACTCCATCGTATATCATA	0.453000														38			30		0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018473	88018473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:88018473C>T	uc003kjl.3	-	11	1829	c.1400G>A	c.(1399-1401)aGg>aAg	p.R467K	MEF2C_uc021ybg.1_Missense_Mutation_p.R377K|MEF2C_uc021ybh.1_Missense_Mutation_p.R401K|MEF2C_uc003kji.2_Missense_Mutation_p.R449K|MEF2C_uc003kjj.3_Missense_Mutation_p.R457K|MEF2C_uc003kjk.3_Missense_Mutation_p.R457K|MEF2C_uc003kjm.3_Missense_Mutation_p.R447K	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	457					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R466*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GGGACTTTCCCTTTCGTCCGG	0.493000										HNSCC(66;0.2)				115			77		0	0	1	0	0
DLEU7	220107	broad.mit.edu	37	13	51417402	51417402	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:51417402C>T	uc001vez.3	-	0	484	c.381G>A	c.(379-381)tcG>tcA	p.S127S	DLEU7_uc001vex.2_Silent_p.S127S|BC035769_uc001vey.3_Intron	NM_198989	NP_945340	Q6UYE1	LEU7_HUMAN	Homo sapiens deleted in lymphocytic leukemia, 7 (DLEU7), mRNA.	127													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GCTCCGAAGTCGAGTCCACCA	0.716000														22			14		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56755153	56755153	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:56755153A>G	uc001xch.3	+	4	596	c.310_splice	c.e4-2	p.V104_splice		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	104					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGATTTACTTAGGTGGGCAGA	0.438000														9			8		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770022	53770022	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:53770022C>T	uc010ydu.2	-	0	897	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	299					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTCATCTTTTCCAGGCAAAAC	0.403000										HNSCC(26;0.072)				24			10		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001406	103001406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:103001406G>A	uc002tbw.4	+	6	907	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	IL18R1_uc010ywd.2_Missense_Mutation_p.E98K|IL18R1_uc010fiy.3_Missense_Mutation_p.E253K|IL18R1_uc010ywc.2_Missense_Mutation_p.E253K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	253	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GATGTTCGGGGAAGAAAATGG	0.328000														47			25		0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3475241	3475242	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:3475241_3475242CC>TT	uc003ghd.3	+	2	279_280	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	DOK7_uc003ghe.3_Missense_Mutation_p.P70L	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	70	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCGGCCTGCCCTACGAGGGCT	0.644000														19			11		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537960	212537960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:212537960C>T	uc002veg.1	-	13	1743	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	ERBB4_uc002veh.1_Missense_Mutation_p.G549S|ERBB4_uc010zji.1_Missense_Mutation_p.G549S|ERBB4_uc010zjj.1_Missense_Mutation_p.G549S|ERBB4_uc010fut.1_Missense_Mutation_p.G549S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	549	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATGGAGCCATTCTCAAAC	0.473000										TSP Lung(8;0.080)				57			32		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180151404	180151404	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:180151404C>T	uc001gnz.3	+	5	777	c.702C>T	c.(700-702)ttC>ttT	p.F234F	QSOX1_uc001gny.3_Silent_p.F234F|QSOX1_uc001gob.1_Non-coding_Transcript	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	234					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCACCGACTTCCCCTCTTGCT	0.607000														131			64		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346196	147346196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:147346196C>T	uc002twf.4	+	0	1572	c.656C>T	c.(655-657)cCc>cTc	p.P219L						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GTAATCAACCCCTACCAGCCA	0.507000														16			11		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71065805	71065805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:71065805G>A	uc002ezr.3	-	18	2696	c.2545C>T	c.(2545-2547)Ctt>Ttt	p.L849F	HYDIN_uc010cfz.2_Missense_Mutation_p.L594F|HYDIN_uc021tkq.1_Missense_Mutation_p.L849F|HYDIN_uc010vmc.2_Missense_Mutation_p.L866F|HYDIN_uc010vmd.2_Missense_Mutation_p.L876F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	849										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCGTCCAAAGGGATTTTTTG	0.438000														29			19		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53585397	53585398	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53585397_53585398AC>CT	uc009zmv.3	-	14	2410_2411	c.2339_2340GT>AG	c.(2338-2340)agt>aAG	p.S780K	ITGB7_uc001scc.3_Missense_Mutation_p.S780K|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	780					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGATGGCACTTTTGTAGAG	0.500000														40			30		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:210857019C>T	uc001hib.2	-	10	2744	c.2574G>A	c.(2572-2574)tcG>tcA	p.S858S	KCNH1_uc001hic.2_Silent_p.S831S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000														84			84		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462682	5462682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:5462682C>T	uc002gci.3	-	3	1889	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	NLRP1_uc002gcg.1_Missense_Mutation_p.G445E|NLRP1_uc002gch.4_Missense_Mutation_p.G445E|NLRP1_uc002gck.3_Missense_Mutation_p.G445E|NLRP1_uc002gcj.3_Missense_Mutation_p.G445E|NLRP1_uc002gcl.3_Missense_Mutation_p.G445E|NLRP1_uc010clh.3_Missense_Mutation_p.G445E	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	445	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TATAGTTTTCCCCAGCAAACT	0.582000														14			9		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10875115	10875115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:10875115C>T	uc003mzn.4	-	4	706	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	212					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTGGATTTTCCAAGGGAGGT	0.428000														66			39		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97007106	97007106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:97007106G>A	uc001kkh.3	-	4	660	c.551C>T	c.(550-552)cCt>cTt	p.P184L		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	184					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGCTTGGAGGCTGAGCATG	0.433000														42			22		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135422	156135422	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:156135422A>T	uc003ioq.3	+	1	820	c.331A>T	c.(331-333)Acc>Tcc	p.T111S	NPY2R_uc003ior.3_Missense_Mutation_p.T111S|NPY2R_uc021xtm.1_Missense_Mutation_p.T111S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	111					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTACCTATACCTTAATGGG	0.488000														29			22		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29904716	29904717	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:29904716_29904717CC>TT	uc021qwi.1	-	4	879_880	c.820_821GG>AA	c.(820-822)ggg>AAg	p.G274K	TMTC1_uc001rjb.3_Missense_Mutation_p.G166K|TMTC1_uc001rjc.1_Missense_Mutation_p.G166K	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	274						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTGCTGCTTCCCATTCTCCCGG	0.644000														9			11		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755466	55755466	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:55755466C>T	uc010qhy.1	-	21	3221	c.2826G>A	c.(2824-2826)ccG>ccA	p.P942P	PCDH15_uc010qhq.2_Silent_p.P942P|PCDH15_uc010qhr.2_Silent_p.P937P|PCDH15_uc021pqv.1_Silent_p.P937P|PCDH15_uc021pqw.1_Silent_p.P949P|PCDH15_uc010qht.2_Silent_p.P944P|PCDH15_uc021pqx.1_Silent_p.P937P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P937P|PCDH15_uc021pqz.1_Silent_p.P915P|PCDH15_uc010qhv.1_Silent_p.P937P|PCDH15_uc010qhw.1_Silent_p.P900P|PCDH15_uc010qhx.1_Silent_p.P866P|PCDH15_uc010qhz.1_Silent_p.P937P|PCDH15_uc010qia.1_Silent_p.P915P|PCDH15_uc001jju.1_Silent_p.P937P|PCDH15_uc010qib.1_Silent_p.P915P|PCDH15_uc001jjw.3_Silent_p.P937P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	937	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGACTGCATCCGGAGCCACCA	0.393000										HNSCC(58;0.16)				29			16		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842289	28842289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:28842289C>T	uc002dqy.3	+	9	1384	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.S406F|ATXN2L_uc002dqz.3_Missense_Mutation_p.S406F|ATXN2L_uc002dra.3_Missense_Mutation_p.S406F|ATXN2L_uc002drb.3_Missense_Mutation_p.S406F|ATXN2L_uc002drc.3_Missense_Mutation_p.S406F|ATXN2L_uc010vdb.2_Missense_Mutation_p.S406F|ATXN2L_uc002dre.3_Missense_Mutation_p.S406F|ATXN2L_uc002drf.3_Intron	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	406						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACAGGCCCTTCCCGCATGTCC	0.498000														9			10		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63973881	63973881	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:63973881G>A	uc003dlv.3	+	8	1795	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ATXN7_uc003dlw.4_Silent_p.P414P|ATXN7_uc021wzy.1_Silent_p.P414P|ATXN7_uc011bfn.2_Silent_p.P269P	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	414	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGACCCGCATCCCGCCC	0.512000														221			5		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674039	19674039	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:19674039C>T	uc002wrl.3	+	12	1658	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	487						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGCTGTGGATCGCAGCCTTCT	0.502000														31			27		0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486095	48486095	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:48486095C>T	uc003gyc.2	+	0	736	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	173						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GGCGGTGCTCCTGTGTGGCTG	0.637000														14			16		0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15761167	15761167	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:15761167C>T	uc002ddt.1	+	1	151	c.108C>T	c.(106-108)ctC>ctT	p.L36L	NDE1_uc010uzy.2_Silent_p.L36L|NDE1_uc002dds.3_Silent_p.L36L	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	36	Self-association (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGAGGAACTCCGAGAATTCC	0.448000														42			30		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201013573	201013573	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:201013573C>T	uc001gvv.3	-	38	4907	c.4680G>A	c.(4678-4680)cgG>cgA	p.R1560R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1560					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCAATGGTCCGCAGCCCTG	0.582000														71			36		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434182	22434182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22434182G>A	uc021rpm.1	+	1	273	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		TGGTAACAAAGAAGATGGAAG	0.448000														69			62		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136170	30136170	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:30136170C>T	uc010jrx.3	+	2	1050	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	191					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCTGGCCAGGCTGAGGGAGCT	0.547000														30			48		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164333	15164333	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:15164333T>G	uc010dzv.2	+	2	280	c.68T>G	c.(67-69)cTg>cGg	p.L23R		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	23					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GCCCTAATACTGTGTGTCACC	0.512000														69			43		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016610	27016610	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:27016610C>T	uc001mrd.3	+	0	983	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	179						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CACTGGACATCTCTGTGGGGC	0.557000														7			35		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439841	132439841	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:132439841C>A	uc004exc.1	-	5	1326	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	GPC4_uc011mvg.1_Nonsense_Mutation_p.E302*	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	372					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.E372K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTGGGCGTTCCTCGGGGTGA	0.552000														24			130		3.13773e-49	3.21307e-49	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123274079	123274079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:123274079C>T	uc003ieh.3	+	78	13915	c.13870C>T	c.(13870-13872)Cga>Tga	p.R4624*	KIAA1109_uc003iem.3_Nonsense_Mutation_p.R980*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4624					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCACATCATCGACACTGGCC	0.443000														48			50		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156817538	156817538	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:156817538C>T	uc021ygm.1	+	29	3591	c.3453C>T	c.(3451-3453)ttC>ttT	p.F1151F	CYFIP2_uc011ddn.2_Silent_p.F1126F|CYFIP2_uc011ddo.2_Silent_p.F956F|CYFIP2_uc021ygn.1_Silent_p.F1151F|CYFIP2_uc021ygo.1_Silent_p.F1151F|CYFIP2_uc003lwt.3_Silent_p.F1055F|CYFIP2_uc011ddp.2_Silent_p.F886F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1177					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAGTGTTTCGGCGATGGCT	0.607000														147			101		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860876	16860876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:16860876G>A	uc002neu.4	+	5	1845	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	NWD1_uc002net.4_Missense_Mutation_p.V340I|NWD1_uc002nev.4_Missense_Mutation_p.V269I|NWD1_uc021uqg.1_Missense_Mutation_p.V340I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	475	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCACTGGGGGTTTTGGACAC	0.642000														52			52		0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100148714	100148714	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:100148714C>T	uc003dtx.4	+	1	1421	c.141C>T	c.(139-141)acC>acT	p.T47T		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	47										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ACAGGAAAACCTCCCTGCCCT	0.547000														95			37		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97462804	97462804	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:97462804C>T	uc002swx.3	+	1	1556	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	CNNM4_uc010yuy.2_5'UTR|MIR3127_uc021vlj.1_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	486	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGGGTGACCCCTTCTACGAGG	0.587000														16			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607007	84607007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:84607007C>T	uc004amn.3	+	3	1669	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	541						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ACATCTATATCCCATGAATCC	0.502000														35			42		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947082	7947082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7947082G>A	uc009zfy.1	+	2	660	c.444G>A	c.(442-444)atG>atA	p.M148I		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	148					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACCAGAGAATGAAATCTAAGA	0.373000														8			5		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917600	39917600	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:39917600C>T	uc003axz.3	+	1	430	c.150C>T	c.(148-150)tcC>tcT	p.S50S	ATF4_uc011aol.1_5'UTR|ATF4_uc003aya.3_Silent_p.S50S|ATF4_uc021wpy.1_Non-coding_Transcript|ATF4_uc021wpz.1_5'Flank	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	50					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					ATGGGTTCTCCAGCGACAAGG	0.577000														6			63		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999732	160999732	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160999732G>A	uc003qtl.3	-	27	4414	c.4294C>T	c.(4294-4296)Ctg>Ttg	p.L1432L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3940	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCCTGGTCAGGCCACTGCAA	0.483000														6			32		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226733	149226733	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:149226733C>T	uc002twm.4	+	8	2218	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	407	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAGTAATCTCCCATTGCCAA	0.438000														84			52		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307882	54307882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:54307882G>A	uc021smr.1	+	0	2782	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	UNC13C_uc021sms.1_Missense_Mutation_p.D928N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	928					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCCAGCAGATGATATGGTTAG	0.388000														30			24		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114825234	114825234	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:114825234C>T	uc010mui.3	-	12	1874	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.E611E|SUSD1_uc010muj.3_Silent_p.E611E			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	611						integral to membrane	calcium ion binding	p.K610N(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTCCATTTTTCTCCTTGGCTT	0.478000														67			49		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802635	31802635	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:31802635C>T	uc011acw.2	+	0	42	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	14						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTCCCGCTCCTTTGGGGGCT	0.542000														85			50		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380560	108380560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:108380560C>T	uc001pkk.3	-	5	5785	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1736K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1704K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1892					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGTTGTTCTTTCCCAAAG	0.398000														4			39		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107252	107252	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrGL000211.1:107252C>T	uc003boa.3	+	4		c.792C>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AAGAGGCTTGCACTGTTATTC	0.418000														160			4		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207717	132207717	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:132207717C>T	uc011ecf.2	+	23	2480	c.2460C>T	c.(2458-2460)atC>atT	p.I820I		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	820	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAAGAGTCATCCGTAACCAAG	0.333000														1			21		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444036	82444036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:82444036G>A	uc002bgt.1	-	17	2928	c.2759C>T	c.(2758-2760)aCc>aTc	p.T920I	EFTUD1_uc002bgu.1_Missense_Mutation_p.T869I	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	920					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACCAGAACAGGTTTCATTTTC	0.453000														111			5		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121632	12121632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:12121632C>T	uc003nac.3	+	3	1783	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	535					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCTTCACTCCAAGCAGTCCA	0.458000														48			17		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496721	20496721	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20496721C>T	uc001ytf.1	+	5		c.774C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AATGTACCTTCTTTCACTCTG	0.403000														32			4		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718131	160718131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:160718131G>A	uc001fwq.3	+	1	218	c.203G>A	c.(202-204)gGc>gAc	p.G68D	SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Missense_Mutation_p.G68D|SLAMF7_uc010pjo.2_Missense_Mutation_p.G68D|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Missense_Mutation_p.G68D|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	68					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCAGAAGGGGGCACTATCATA	0.498000														41			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980945	70980945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:70980945G>A	uc001swb.4	-	6	1529	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	PTPRB_uc010sto.2_Missense_Mutation_p.S500F|PTPRB_uc010stp.2_Missense_Mutation_p.S410F|PTPRB_uc001swc.4_Missense_Mutation_p.S718F|PTPRB_uc001swa.4_Missense_Mutation_p.S718F|PTPRB_uc001swd.4_Missense_Mutation_p.S717F|PTPRB_uc009zrr.2_Missense_Mutation_p.S597F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	500	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCAGCTAGGGAAATGATGTA	0.478000														26			24		0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122710559	122710559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:122710559C>T	uc010tab.2	-	1	808	c.3G>A	c.(1-3)atG>atA	p.M1I	DIABLO_uc010taa.2_5'UTR|DIABLO_uc010tac.2_Non-coding_Transcript|DIABLO_uc010tad.2_Missense_Mutation_p.M1I|VPS33A_uc001ucc.3_Intron	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAGAGCCGCCATTGTGCAGC	0.682000														6			7		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839399	62839399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:62839399G>A	uc002yii.3	+	6	1214	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	284	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggaggaagaggaaga	0.557000														11			10		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197021831	197021831	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:197021831G>A	uc001gtt.1	-	8	1532	c.1488C>T	c.(1486-1488)acC>acT	p.T496T		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	496	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAGACAATGGGGTTAATGGAG	0.318000														52			40		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12001227	12001227	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:12001227G>A	uc001ila.3	-	10	2787	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	UPF2_uc001ilb.3_Silent_p.L771L|UPF2_uc001ilc.3_Silent_p.L771L|UPF2_uc009xiz.2_Silent_p.L771L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	771	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATATTCCTGGAGAGGAGGAC	0.408000														342			251		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312509	45312509	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:45312509A>G	uc003bfn.3	-	4	365	c.214_splice	c.e4-1	p.V72_splice	PHF21B_uc011aqk.2_Splice_Site_p.V60_splice|PHF21B_uc003bfm.3_Splice_Site|PHF21B_uc011aql.2_Splice_Site_p.V72_splice|PHF21B_uc011aqm.1_Splice_Site_p.V60_splice	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	72							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTTGGCCTAACCTGGGAAGA	0.627000														4			74		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102517984	102517984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:102517984C>T	uc003vaq.2	-	15	1992	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.G522E|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.G522E	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	522										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATATCCAATTCCTTGGGCAGT	0.318000														10			36		0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19559734	19559734	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:19559734A>G	uc002gwa.1	+	3	748	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	ALDH3A2_uc002gwb.1_Missense_Mutation_p.Q176R|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwd.1_5'UTR	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A2 (ALDH3A2), transcript variant 1, mRNA.	176					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CTCCTGAAGCAGCGATTTGAC	0.448000														31			13		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10444004	10444004	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:10444004C>T	uc010coi.3	-	10	1043	c.915G>A	c.(913-915)ctG>ctA	p.L305L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L305L|MYH2_uc010coj.3_Silent_p.L305L	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	305	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L305L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCGTGGTAATCAGAAGCATTT	0.378000														25			16		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217666	155217666	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:155217666G>A	uc001fjm.3	-	11	2520	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	FAM189B_uc009wql.3_Silent_p.S440S|FAM189B_uc001fjn.3_Silent_p.S542S|FAM189B_uc001fjo.3_Silent_p.S620S|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	638	Poly-Ser.					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						GACGCCGCAGGGAAGAGCTAG	0.687000														7			9		0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705266	41705266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:41705266C>T	uc001uxu.1	-	0	1671	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	461							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCACTGGTTTCTCTTAACATT	0.438000														155			25		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183510133	183510133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:183510133C>T	uc001gqg.3	+	12	1560	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	SMG7_uc010pob.2_Missense_Mutation_p.S466F|SMG7_uc021pga.1_Missense_Mutation_p.S395F|SMG7_uc001gqf.3_Missense_Mutation_p.S437F|SMG7_uc001gqh.3_Missense_Mutation_p.S437F|SMG7_uc010poc.2_Missense_Mutation_p.S395F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	437					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTGGATTTTTCCAAAGGTCAC	0.393000														41			44		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:145359169T>A	uc021oul.1	+	71	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3037								p.L3037M(14)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458000														414			6		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210471	100210471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:100210471G>A	uc002taf.3	-	13	1871	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	AFF3_uc002tag.3_Missense_Mutation_p.P551L|AFF3_uc010fiq.1_Missense_Mutation_p.P551L|AFF3_uc010yvr.1_Missense_Mutation_p.P704L|AFF3_uc002tah.1_Missense_Mutation_p.P576L	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	551					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGCCGCGGGCGGGGACTT	0.706000														90			32		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100482740	100482740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:100482740G>A	uc001tgq.3	-	7	1203	c.974C>T	c.(973-975)tCt>tTt	p.S325F	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.S325F|UHRF1BP1L_uc001tgp.3_5'UTR	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	325										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCTAGATGAGAAATCACTAA	0.308000														16			14		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65983617	65983617	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:65983617C>T	uc001oha.2	+	4	822	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	PACS1_uc001ogz.1_Silent_p.L230L	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	230					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGAAGGCGCACTGGTGCTTGG	0.532000														6			32		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:196602738C>T	uc002utj.4	-	64	12083	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_uc002uti.4_Silent_p.T477T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3994					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						TCACAAAATTCGTGGAATGGC	0.453000														32			25		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110472024	110472024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:110472024G>A	uc003yne.3	+	46	7309	c.7205G>A	c.(7204-7206)tGg>tAg	p.W2402*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2402					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)			AATGTTGAGTGGAATAACAAA	0.353000										HNSCC(38;0.096)				13			3		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202715368	202715368	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:202715368G>A	uc009xag.3	-	15	2324	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	KDM5B_uc001gyf.3_Silent_p.F700F|KDM5B_uc001gyg.1_Silent_p.F542F	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	700					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGGCAGACATGAAGCATGTAG	0.393000														55			43		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28297363	28297363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:28297363G>A	uc003nlc.3	-	1	487	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZNF323_uc003nld.3_Missense_Mutation_p.S33F|ZNF323_uc010jra.3_Missense_Mutation_p.S33F|ZNF323_uc003nla.3_Missense_Mutation_p.S33F|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.S33F|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	33					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTCTTGGCCAGAAAAGTTGTT	0.502000														206			46		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65444470	65444470	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:65444470G>A	uc003tun.3	-	3	771	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	GUSB_uc011kdt.2_Intron|GUSB_uc010kzw.2_Silent_p.D42D	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	214					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GACCGCTGCAGTCCAGCGTAG	0.527000														43			5		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:8504401C>T	uc003zkk.3	-	22	2425	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R555Q|PTPRD_uc003zks.3_Missense_Mutation_p.R551Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R558Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)				9			76		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177901873	177901873	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:177901873G>A	uc001glj.1	-	27	3761	c.2895C>T	c.(2893-2895)tcC>tcT	p.S965S	SEC16B_uc001glk.1_Silent_p.S641S|SEC16B_uc009wwy.1_Intron|SEC16B_uc001glh.1_Silent_p.S624S|SEC16B_uc001gli.1_Silent_p.S964S|SEC16B_uc009wwz.1_Silent_p.S623S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	964					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGAGGTGGGGACTCAGGGG	0.622000														18			9		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140254	94140254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:94140254G>A	uc001dpz.3	-	1	508	c.233C>T	c.(232-234)tCc>tTc	p.S78F	BCAR3_uc001dqa.3_Missense_Mutation_p.S78F|BCAR3_uc001dqb.3_Missense_Mutation_p.S78F	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	78					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCGTGGGGATTTGGAGTG	0.552000														3			23		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275668	54275668	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:54275668T>A	uc004dtc.2	-	16	3552	c.3113A>T	c.(3112-3114)gAt>gTt	p.D1038V	WNK3_uc004dtd.2_Missense_Mutation_p.D1038V	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1038					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGGCTTTTGATCAAATGCCAG	0.443000														5			21		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240891	149240891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:149240891C>T	uc002twm.4	+	9	3728	c.2731C>T	c.(2731-2733)Cca>Tca	p.P911S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	911						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACCATCTTCCACACCCCTT	0.478000														104			127		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:242021733G>A	uc002wah.1	+	28	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_uc002wai.1_Missense_Mutation_p.E561K|SNED1_uc002waj.1_Missense_Mutation_p.E413K	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582000														159			64		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237801729	237801729	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237801729G>T	uc001hyl.1	+	44	6985	c.6865G>T	c.(6865-6867)Ggg>Tgg	p.G2289W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2289	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCAGACATTGGGTGGAACCC	0.413000														216			74		3.19467e-53	3.27821e-53	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25770660	25770660	+	Missense_Mutation	SNP	C	T	T	rs140215842		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:25770660C>T	uc003nfe.3	+	4	699	c.580C>T	c.(580-582)Cca>Tca	p.P194S	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.P131S	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	194					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGGCTCCCCCACTGGAAAG	0.463000														246			33		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962639	69962639	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:69962639A>G	uc003heg.4	+	0	447	c.401A>G	c.(400-402)aAg>aGg	p.K134R	UGT2B7_uc010ihq.3_Missense_Mutation_p.K134R	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	134					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTCAAATAAGAAATTTATG	0.323000														19			17		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102906	22102906	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22102906G>A	uc010tmc.2	-	0	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGACCAGGAAGAGGAGGCTTC	0.502000														47			47		0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101409140	101409140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:101409140C>T	uc022cat.1	-	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E	BEX5_uc010nnz.3_Missense_Mutation_p.G33E|BEX5_uc004eir.3_Missense_Mutation_p.G33E	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA.	33						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTTAACATTTCCTCCAGGCTC	0.498000														12			36		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653912	7653912	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:7653912A>C	uc001qsz.3	-	2	408	c.280T>G	c.(280-282)Tgt>Ggt	p.C94G	CD163_uc001qta.3_Missense_Mutation_p.C94G|CD163_uc009zfw.2_Missense_Mutation_p.C94G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	94	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCAGTTGGACATCCCAGCTGG	0.512000														37			46		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680742	81680742	+	RNA	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:81680742G>A	uc021puw.1	+	3		c.585G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GCCCTCCTGGGAAGATGGGGC	0.537000														5			8		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585198	61585198	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:61585198G>A	uc010xev.2	+	4	325	c.235_splice	c.e4-1	p.E79_splice	SERPINB2_uc010xew.2_Splice_Site_p.E79_splice	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	89					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTCTTTTAAAGGAATTCAACT	0.338000														16			15		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14014025	14014026	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:14014025_14014026GG>AA	uc002dce.2	+	0	12_13	c.3_4GG>AA	c.(1-6)atggag>atAAag	p.1_2ME>IK	ERCC4_uc010bva.3_Missense_Mutation_p.1_2ME>IK	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	1					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GAGCTTCCATGGAGTCAGGGCA	0.629000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					49			25		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74934093	74934093	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:74934093C>T	uc002jti.3	+	10	1582	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	MGAT5B_uc002jth.3_Silent_p.I482I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	484						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGGGCATCCTGAACAAAT	0.552000														39			20		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122004453	122004453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:122004453C>T	uc004bkc.2	-	3	907	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DBC1_uc004bkd.2_Missense_Mutation_p.D151N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	151	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.L150F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTTCCTGTCGAGGCGACTT	0.488000														3			34		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813565	24813565	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:24813565A>G	uc001iru.4	+	12	3173	c.2770A>G	c.(2770-2772)Acc>Gcc	p.T924A	KIAA1217_uc001irs.3_Missense_Mutation_p.T844A|KIAA1217_uc001irt.4_Missense_Mutation_p.T889A|KIAA1217_uc010qcy.2_Missense_Mutation_p.T889A|KIAA1217_uc010qcz.2_Missense_Mutation_p.T889A|KIAA1217_uc001irv.1_Missense_Mutation_p.T739A|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.T607A|KIAA1217_uc001irz.3_Missense_Mutation_p.T607A|KIAA1217_uc001irx.3_Missense_Mutation_p.T607A|KIAA1217_uc001iry.3_Missense_Mutation_p.T607A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	924					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAGGAAGCAACCTCCACTCT	0.602000														21			19		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21959320	21959320	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:21959320C>T	uc011kyx.2	+	13	1860	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	603										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGGGCCACTTCCTCCGAGTGC	0.642000														9			23		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173123	51173123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:51173123C>T	uc021tif.1	-	1	3041	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SALL1_uc021tid.1_Missense_Mutation_p.D907N|SALL1_uc021tie.1_Missense_Mutation_p.D1004N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1004					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAAATGTCACAAGCAGTG	0.403000														31			35		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119459488	119459488	+	Silent	SNP	C	T	T	rs141278377		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:119459488C>T	uc003ede.4	+	12	1703	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	C3orf15_uc010hqy.2_Silent_p.A542A|C3orf15_uc010hqz.3_Silent_p.A480A|C3orf15_uc011bjd.2_Silent_p.A416A|C3orf15_uc011bje.2_Silent_p.A522A|C3orf15_uc010hra.2_Silent_p.A303A	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	378						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TGAAAAAAGCCGAGAAGCAAG	0.438000														28			21		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880108	209880108	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:209880108A>C	uc001hhj.3	+	3	406	c.274A>C	c.(274-276)Acc>Ccc	p.T92P	HSD11B1_uc021pin.1_Missense_Mutation_p.T92P|HSD11B1_uc001hhk.3_Missense_Mutation_p.T92P	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	92					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CATTGCTGGCACCATGGAAGA	0.512000														158			108		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32776606	32776606	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:32776606C>T	uc001utx.3	+	30	4456	c.3960C>T	c.(3958-3960)gcC>gcT	p.A1320A	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTCACTTGCCCTCTTGTCAT	0.493000														126			22		0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728701	122728701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:122728701C>T	uc003iea.3	+	5	637	c.529C>T	c.(529-531)Cct>Tct	p.P177S	EXOSC9_uc003idz.3_Missense_Mutation_p.P177S|EXOSC9_uc003ieb.3_Missense_Mutation_p.P161S|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	177	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ACAGTATACACCTGAAGAGCG	0.363000														24			25		0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132860462	132860462	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:132860462T>G	uc011eci.2	+	1	1033	c.1031T>G	c.(1030-1032)gTa>gGa	p.V344G		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	Homo sapiens trace amine associated receptor 9 (gene/pseudogene) (TAAR9), mRNA.	345						plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCTGAAGAAGTAGAGACAGAT	0.348000														1			10		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277309	48277309	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:48277309C>T	uc002iqm.3	-	2	230	c.104_splice	c.e2-1	p.I35_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	35					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATTGGTGGGACTGGGACAGGC	0.587000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							69			66		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6606657	6606657	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:6606657C>T	uc003zkc.3	-	4	841	c.648G>A	c.(646-648)agG>agA	p.R216R		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	216					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.R216T(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GAAATTTCCTCCTCTTGTTGT	0.393000														9			42		0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79632785	79632785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:79632785G>A	uc002ffm.3	-	0	1838	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	MAF_uc002ffn.3_Missense_Mutation_p.R339C	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	339	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TCCCTCTCGCGCACCAGCCTG	0.587000			T	IGH@	MM									12			25		0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82443501	82443501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:82443501G>A	uc011lfp.2	-	0	50	c.50C>T	c.(49-51)tCc>tTc	p.S17F	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	17							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GTAGTCTTCGGAATTTTCACA	0.383000														8			12		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610836	50610836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:50610836G>A	uc001csb.2	+	1	485	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ELAVL4_uc001cry.3_Missense_Mutation_p.E76K|ELAVL4_uc001crz.3_Missense_Mutation_p.E73K|ELAVL4_uc001csa.3_Missense_Mutation_p.E90K|ELAVL4_uc001csc.3_Missense_Mutation_p.E73K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E78K|ELAVL4_uc010omz.2_Missense_Mutation_p.E78K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	73	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGTGAAATAGAATCCTGCAA	0.413000														4			55		0	0	1	0	0
LOC100132247	100132247	broad.mit.edu	37	16	22545867	22545868	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:22545867_22545868CC>TT	uc010bxg.3	+	8	1745_1746	c.1563_1564CC>TT	c.(1561-1566)gccctt>gcTTtt	p.L522F	LOC100132247_uc010vbv.2_Missense_Mutation_p.L522F|LOC100132247_uc021tew.1_Missense_Mutation_p.L522F|LOC100132247_uc010bxi.3_Missense_Mutation_p.L503F|LOC100132247_uc010bxk.3_Missense_Mutation_p.L339F|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_5'Flank	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGCTCACTGCCCTTCCACCCTC	0.574000														271			32		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13428095	13428095	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:13428095C>T	uc002mwy.3	-	10	1622	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	CACNA1A_uc010dzc.2_5'UTR|CACNA1A_uc010xnd.2_Silent_p.L462L|CACNA1A_uc021ups.1_Silent_p.L462L|CACNA1A_uc010xne.2_Silent_p.L462L|CACNA1A_uc010dze.2_Silent_p.L462L|CACNA1A_uc021upt.1_Silent_p.L463L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	463					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCGAGTTCTCCAGCTTGGCAC	0.493000														13			10		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762219	62762219	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr11:62762219G>A	uc009yon.3	-	7	1132	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.T214T|SLC22A8_uc001nwo.3_Silent_p.T337T|SLC22A8_uc010rmm.2_Silent_p.T246T|SLC22A8_uc001nwp.2_Silent_p.T337T	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	337					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGCAAAACCGGTAGCAAACC	0.517000														4			19		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506974	74506974	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:74506974C>T	uc001dfy.4	-	6	1833	c.1641G>A	c.(1639-1641)gaG>gaA	p.E547E	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	547										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCAGGCTTTTCTCTTTTAGGA	0.308000														8			42		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000														30			8		5.18039e-06	5.21762e-06	1	1	0
IL1R1	3554	broad.mit.edu	37	2	102792980	102792980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:102792980G>A	uc002tbq.3	+	11	1789	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	IL1R1_uc010fix.3_Missense_Mutation_p.E460K|IL1R1_uc002tbr.3_Missense_Mutation_p.E491K	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	491	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GCTTGAGCTGGAGAAAATCCA	0.443000														24			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38881674	38881674	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:38881674G>A	uc021yzh.1	+	66	10018	c.9909G>A	c.(9907-9909)caG>caA	p.Q3303Q	DNAH8_uc003ooe.2_Silent_p.Q3086Q|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACTCTCTCAGGATCTTGCAG	0.378000														57			11		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658739	146658739	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:146658739T>A	uc001epi.2	-	8	1731	c.1342A>T	c.(1342-1344)Aat>Tat	p.N448Y	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	448						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GACAGCAGATTGGGCCTGACC	0.507000														62			25		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452473	10452473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:10452473C>T	uc003bvt.3	-	2	665	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E76K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E76K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E76K|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	76					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTTCTCTTTTCCAGGTCTGGA	0.547000														134			123		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:103433355G>A	uc001kto.3	-	2	778	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	144					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CATCTGGACGGAACTGGTAGG	0.483000														44			36		0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49272580	49272580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:49272580G>A	uc002itr.4	-	12	1711	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	MBTD1_uc002itp.4_Missense_Mutation_p.P292L|MBTD1_uc002itq.4_Intron	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	456					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGTACCTCTGGGTGGAGTAAG	0.393000														8			10		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430317	135430317	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:135430317G>A	uc004ezu.1	+	5	4743	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	GPR112_uc010nsb.1_Silent_p.R1279R|GPR112_uc010nsc.1_Silent_p.R1251R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1483Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCCGACAGGATCACTACAG	0.443000														16			61		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425405	138425405	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:138425405C>T	uc002tva.1	+	25	4623	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGATTTTCCTAATATTTA	0.313000														11			4		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174606552	174606552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:174606552C>T	uc001gjx.3	+	13	2027	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	584	Rab-GAP TBC.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGATATTCATCGTACATTTCC	0.358000														46			14		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114170249	114170249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:114170249C>T	uc001kzu.3	+	7	1020	c.908C>T	c.(907-909)cCt>cTt	p.P303L	ACSL5_uc001kzs.3_Missense_Mutation_p.P247L|ACSL5_uc001kzt.3_Missense_Mutation_p.P247L|ACSL5_uc009xxz.3_Missense_Mutation_p.P247L|ACSL5_uc010qrj.2_Missense_Mutation_p.P29L	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	247					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTCAGAAAACCTGTGGTAAGT	0.443000														12			13		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026070	32026070	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32026070C>T	uc003nzl.2	-	21	7792	c.7590G>A	c.(7588-7590)gtG>gtA	p.V2530V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2590	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGATCCTGTCACTGTCAGCT	0.672000														600			229		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040160	239040160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:239040160G>A	uc002vxq.4	+	8	2915	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ESPNL_uc010fyw.3_Nonsense_Mutation_p.W631*	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	935								p.A934S(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCCCGCCTGGGATACGGAGC	0.726000														17			11		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621682	61621682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:61621682G>A	uc002jay.3	+	11	2494	c.2414G>A	c.(2413-2415)aGg>aAg	p.R805K	KCNH6_uc010wpl.2_Missense_Mutation_p.R646K|KCNH6_uc010wpm.2_Missense_Mutation_p.R769K|KCNH6_uc002jaz.1_Missense_Mutation_p.R716K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	805					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATGCCCCCAAGGCACAGCCCC	0.607000														27			12		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8469690	8469690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:8469690C>T	uc003glg.2	+	8	1562	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	METTL19_uc003glf.1_Missense_Mutation_p.S274F|METTL19_uc003glh.1_Missense_Mutation_p.S123F	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	515					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						AGAGAAGCTTCCGTGGATGAA	0.507000														41			29		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26181399	26181399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26181399G>A	uc003abz.1	+	10	2567	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MYO18B_uc003aca.1_Missense_Mutation_p.E654K|MYO18B_uc010guy.1_Missense_Mutation_p.E654K|MYO18B_uc010guz.1_Missense_Mutation_p.E654K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.E286K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	773	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCCAGGACGGAGCTGAACCT	0.612000														2			21		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805463	55805463	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:55805463C>T	uc002qkf.3	+	6	712	c.585C>T	c.(583-585)tcC>tcT	p.S195S	BRSK1_uc021vbs.1_Silent_p.S179S|BRSK1_uc002qkg.3_Silent_p.S179S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	179	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.P194L(1)|p.P194P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATGGCGTCCCTGCAGGTGG	0.612000														180			86		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383432	12383432	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:12383432G>A	uc010xmj.2	-	4	1987	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.F546F	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTCTTAGAAGGAAAGAGGGCC	0.418000														10			12		0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096298	178096298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:178096298C>T	uc002ulh.4	-	4	1588	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	NFE2L2_uc002ulg.4_Missense_Mutation_p.G329S|NFE2L2_uc010zfa.2_Missense_Mutation_p.G322S|NFE2L2_uc002uli.4_Missense_Mutation_p.G329S	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	345					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTGAAATGCCGGAGTCAGAA	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				72			25		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35926330	35926330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:35926330G>A	uc021rid.1	+	37	6583	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K	NBEA_uc021ric.1_Missense_Mutation_p.E2014K|NBEA_uc010abi.3_Missense_Mutation_p.E673K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2017						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGAAGAGAGGAAGAAAAGAT	0.333000														32			11		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107863518	107863518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:107863518G>A	uc022ccg.1	+	30	2741	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	COL4A5_uc004enz.1_Missense_Mutation_p.D847N|COL4A5_uc004eob.1_Missense_Mutation_p.D455N	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	847	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGAGAAGGGGGATCCAGGACC	0.458000									Alport syndrome with Diffuse Leiomyomatosis					6			40		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109802	43109802	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:43109802C>T	uc011dve.1	+	11	1968	c.1926C>T	c.(1924-1926)ccC>ccT	p.P642P	PTK7_uc003oub.1_Silent_p.P634P|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.P594P|PTK7_uc003oue.1_Silent_p.P504P|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	634	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCTGGACCCCACCAAGCTGG	0.667000														63			29		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496705	20496705	+	RNA	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:20496705G>A	uc001ytf.1	+	5		c.758G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GTTTGAACATGAAAGAAATGT	0.423000														38			8		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311726	154311726	+	Silent	SNP	G	A	A	rs3749672	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:154311726G>A	uc003lvx.3	-	3	677	c.594C>T	c.(592-594)atC>atT	p.I198I	GEMIN5_uc011ddk.1_Silent_p.I198I	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	198					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.E197Q(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTATGGAGTGGATTTCATCAT	0.408000														46			43		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160963826	160963826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:160963826C>T	uc003qtl.3	-	34	5533	c.5413G>A	c.(5413-5415)Gat>Aat	p.D1805N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4313	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCCCACAATCAAATGAAGAG	0.502000														6			50		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513913	1513913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:1513913G>A	uc003wpl.3	+	2	1152	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	DLGAP2_uc003wpm.3_Missense_Mutation_p.R352K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	431					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCTGCAGGAGAATGAGAAGT	0.542000														14			6		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147688	100147688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:100147688G>A	uc003knk.3	-	4	1271	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	315					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATAATAATGATATTTGACC	0.358000														19			10		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755239	165755239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:165755239C>T	uc002ucw.2	-	11	1259	c.928_splice	c.e11-1	p.G310_splice	SLC38A11_uc002ucu.2_Splice_Site_p.G288_splice|SLC38A11_uc002ucv.2_Splice_Site_p.G310_splice|5S_rRNA_uc021vrx.1_5'Flank	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	310					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACAGAGCACACCCTGCATGTT	0.383000														14			17		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942990	134942990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:134942990C>T	uc001llw.3	+	15	3815	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L	GPR123_uc001llx.4_Missense_Mutation_p.P553L			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	553						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGAACGGGACCCTGGAAAAAC	0.607000														17			7		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379467	19379467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:19379467G>A	uc022btq.1	-	27	3847	c.3847C>T	c.(3847-3849)Ctt>Ttt	p.L1283F	MAP3K15_uc004czj.2_Missense_Mutation_p.L718F|MAP3K15_uc004czk.2_Missense_Mutation_p.L758F|PDHA1_uc004czh.4_3'UTR|PDHA1_uc011mjc.2_3'UTR|PDHA1_uc004czg.4_3'UTR|PDHA1_uc011mjd.2_3'UTR|PDHA1_uc010nfl.3_3'UTR|MAP3K15_uc004czi.2_Missense_Mutation_p.L217F	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1283							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CGTAGTCGAAGGTATCTTAGA	0.388000														3			13		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643619	91643619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:91643619G>A	uc003ulg.3	+	9	3814	c.3589G>A	c.(3589-3591)Gaa>Aaa	p.E1197K	AKAP9_uc003ule.2_Missense_Mutation_p.E1209K|AKAP9_uc003ulf.3_Missense_Mutation_p.E1197K|AKAP9_uc003uli.3_Missense_Mutation_p.E822K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1209					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCAGTGTCTGAAGAATGTTC	0.358000			T	BRAF	papillary thyroid									7			11		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14730271	14730271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:14730271G>A	uc002mzi.4	-	15	2081	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	EMR3_uc010dzp.3_Missense_Mutation_p.P593S|EMR3_uc010xnv.2_Missense_Mutation_p.P519S	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	645					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACTTGTCCTGGAAAAACATCC	0.338000														34			46		0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165156	1165156	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:1165156C>T	uc003gco.4	-	2	668	c.339G>A	c.(337-339)gcG>gcA	p.A113A	SPON2_uc021xkj.1_Silent_p.A113A|SPON2_uc010ibr.3_Silent_p.A113A|SPON2_uc003gcm.1_Silent_p.A31A	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	113	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCGCCTCCCCCGCCGCCTCGA	0.692000														17			30		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176084570	176084570	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:176084570C>T	uc003met.3	+	8	1099	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.3_Silent_p.S287S|TSPAN17_uc003mew.3_3'UTR	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	134						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCATTTCCGAGGTCCTGT	0.547000														8			11		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815107	152815107	+	Silent	SNP	G	A	A	rs143273384	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:152815107G>A	uc004fht.1	+	8	1617	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	ATP2B3_uc004fhs.1_Silent_p.E497E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	497					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTACAAAGAGATTCCGGCCC	0.582000														3			34		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53162536	53162536	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:53162536G>A	uc001sax.3	-	8	1932	c.1878C>T	c.(1876-1878)tcC>tcT	p.S626S		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	626	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGTGGTCTGGGAGAAGCGGA	0.542000														69			43		0	0	1	0	0
CDC37L1	55664	broad.mit.edu	37	9	4701869	4701869	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:4701869G>A	uc003zio.3	+	5	955	c.753G>A	c.(751-753)gaG>gaA	p.E251E		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	251	Self-association and interaction with Hsp90.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TCTAGGCAGAGGAAGAAGGTT	0.323000														6			21		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41546047	41546047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:41546047G>A	uc003xok.3	-	33	4249	c.4165C>T	c.(4165-4167)Ctc>Ttc	p.L1389F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.L705F|ANK1_uc003xoi.3_Missense_Mutation_p.L1389F|ANK1_uc003xoj.3_Missense_Mutation_p.L1389F|ANK1_uc003xol.3_Missense_Mutation_p.L1389F|ANK1_uc003xom.3_Missense_Mutation_p.L1430F	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1389	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACTCACTGAGAATGCTGTAT	0.587000														38			26		0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531550	74531550	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:74531550C>G	uc001xpo.3	-	10	1577	c.1478G>C	c.(1477-1479)gGa>gCa	p.G493A	C14orf45_uc010tup.2_3'UTR|C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.G480A|ALDH6A1_uc010asa.3_Missense_Mutation_p.G338A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	493						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ATTGGTGTCTCCCCTGAAGGA	0.403000														17			15		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33468379	33468379	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:33468379G>A	uc003zsz.3	-	9	1349	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	NOL6_uc003zta.3_Silent_p.F416F|NOL6_uc010mjv.3_Silent_p.F413F|NOL6_uc011lob.2_Silent_p.F356F|NOL6_uc003ztb.1_Silent_p.F416F	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	416					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGAATCCAGGAAGACAACGG	0.577000														14			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595373	179595373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179595373C>T	uc021vsy.1	-	57	14380	c.14155G>A	c.(14155-14157)Gaa>Aaa	p.E4719K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1380K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5646	Ig-like 27.						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)			TTGTACTTTTCACTAGCTGAT	0.398000														55			54		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964456	52964456	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:52964456G>A	uc001sap.1	-	4	1053	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	335	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGACCACCTTGGTCTGGTACA	0.592000														16			13		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368846	27368846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:27368846C>T	uc003njf.1	+	2	1215	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	ZNF391_uc021ypw.1_Missense_Mutation_p.R233C	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R233H(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTTCGGTGACCGTTCAACCAT	0.423000														28			37		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156144622	156144622	+	Missense_Mutation	SNP	C	T	T	rs111977724		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156144622C>T	uc001fnl.3	+	11	1504	c.1325C>T	c.(1324-1326)tCg>tTg	p.S442L	SEMA4A_uc009wrq.3_Missense_Mutation_p.S442L|SEMA4A_uc001fnm.3_Missense_Mutation_p.S442L|SEMA4A_uc001fnn.3_Missense_Mutation_p.S310L|SEMA4A_uc001fno.3_Missense_Mutation_p.S442L	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	442	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCCACAGGGTCGCTCCACAAG	0.572000														36			18		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55573425	55573425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:55573425C>T	uc010igr.3	+	5	1174	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	KIT_uc010igs.3_Missense_Mutation_p.P363S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	363	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGATTATCCCAAGTCTGA	0.398000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					8			7		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077640	56077640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:56077640G>A	uc010spr.2	+	1	751	c.542G>A	c.(541-543)gGa>gAa	p.G181E		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	181							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAACCATATGGAAGCTGGGCC	0.542000														50			32		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24873931	24873931	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:24873931G>A	uc003neo.1	-	2	374	c.198C>T	c.(196-198)ccC>ccT	p.P66P	FAM65B_uc011djs.1_Silent_p.P95P|FAM65B_uc011dju.2_Silent_p.P100P|FAM65B_uc003nep.3_Silent_p.P66P|FAM65B_uc011djt.2_Silent_p.P66P	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	66	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GAGGCTCTTTGGGGGGATTGT	0.428000														107			52		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899120	133899120	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:133899120C>T	uc003ytw.3	+	8	1544	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	501					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTCAATTTTTCCAGCAACTTG	0.438000														63			27		0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64686287	64686287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:64686287C>T	uc002anm.3	+	1	304	c.244C>T	c.(244-246)Cct>Tct	p.P82S		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	82					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GATTTCGGATCCTTTGCAGCA	0.333000														15			8		0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74439639	74439639	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:74439639G>A	uc010tuo.2	-	12	1286	c.975C>T	c.(973-975)tcC>tcT	p.S325S	ENTPD5_uc001xpi.3_Silent_p.S325S	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	325					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		AAGCATAGAAGGAACCTCTCT	0.537000														108			70		0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113898732	113898732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113898732G>A	uc021rmv.1	+	11	1248	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	CUL4A_uc021rmu.1_Missense_Mutation_p.V313M|CUL4A_uc010agu.3_Missense_Mutation_p.V274M|CUL4A_uc010tjz.2_Missense_Mutation_p.V92M	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	413					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGCAAAGCATGTGGATTCAAA	0.408000														29			6		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32576120	32576120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:32576120G>A	uc001iwg.1	-	6	1328	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	EPC1_uc001iwi.3_Missense_Mutation_p.P303L|EPC1_uc009xlt.2_Missense_Mutation_p.P303L|EPC1_uc001iwh.1_Missense_Mutation_p.P353L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	353					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CGTCTGTTGGGGAGTAGCAGC	0.473000														37			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595650	179595650	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179595650A>G	uc021vsy.1	-	57	14233	c.14008_splice	c.e57+1	p.D4670_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.D1331_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5597	Ig-like 27.						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)			AACAATACCAACCTAATACAT	0.338000														167			86		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881835	69881835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:69881835C>T	uc001jnm.4	+	2	825	c.640C>T	c.(640-642)Cct>Tct	p.P214S	MYPN_uc001jnl.1_Missense_Mutation_p.P214S|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.P214S|MYPN_uc001jnp.1_Missense_Mutation_p.P214S|MYPN_uc009xps.3_Missense_Mutation_p.P214S|MYPN_uc009xpt.3_Missense_Mutation_p.P214S|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	214	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGTTCCCATCCCTATCCCTGC	0.507000														17			19		0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91700825	91700825	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:91700825G>A	uc021ryk.1	-	0	570	c.570C>T	c.(568-570)ttC>ttT	p.F190F	GPR68_uc001xzg.3_Silent_p.F190F|GPR68_uc001xzh.3_Silent_p.F190F	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	190					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AGCCCACCAGGAAGCGGTAGT	0.647000														14			13		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525795	176525795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:176525795G>A	uc001gkz.3	+	1	1501	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	PAPPA2_uc001gky.1_Missense_Mutation_p.E113K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	113					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						AGACCTGACTGAAAATCCAGC	0.562000														179			114		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448624	52448624	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52448624A>T	uc002pxz.2	+	5	1952	c.1488A>T	c.(1486-1488)aaA>aaT	p.K496N	ZNF613_uc002pya.2_Missense_Mutation_p.K460N	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGAGATAAATCATGTCTCA	0.453000														24			17		0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174988343	174988343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:174988343G>A	uc002uih.3	-	5	796	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	OLA1_uc002uii.3_Missense_Mutation_p.H46Y|OLA1_uc010fqq.3_Missense_Mutation_p.H204Y|OLA1_uc010fqr.3_Missense_Mutation_p.H204Y	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	204					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTCCAATCATGATAGAAGCGA	0.313000														44			41		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719488	48719488	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:48719488G>A	uc003cun.3	-	3	682	c.588C>T	c.(586-588)gcC>gcT	p.A196A	NCKIPSD_uc003cum.3_Silent_p.A189A|NCKIPSD_uc010hkh.2_Silent_p.A196A	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	196	Pro-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTCCCAGAGGCCATCAGGG	0.612000														20			37		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237794791	237794791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237794791G>A	uc001hyl.1	+	41	6625	c.6505G>A	c.(6505-6507)Gag>Aag	p.E2169K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2169	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E2167*(1)|p.V2169V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGGATGCACGAGACTGTGAT	0.458000														37			8		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825180	52825180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:52825180C>T	uc010ydl.2	+	4	747	c.677C>T	c.(676-678)aCt>aTt	p.T226I	ZNF480_uc002pyv.3_Missense_Mutation_p.T149I|ZNF480_uc010ydm.2_Missense_Mutation_p.T183I|ZNF480_uc010epn.3_Missense_Mutation_p.T57I|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTAATCCATACTGTAGAGAAA	0.368000														27			32		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376706	8376706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:8376706C>T	uc001qui.2	-	4	788	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM90A1_uc001quh.2_Missense_Mutation_p.E77K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	77							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCTTCCCTTCCTTTTCCCCA	0.552000														57			50		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099485	142099485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:142099485G>A	uc003vyz.1	-	1	317	c.317C>T	c.(316-318)tCc>tTc	p.S106F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_Non-coding_Transcript|TCRB_uc022ane.1_Missense_Mutation_p.S106F					SubName: Full=Uncharacterized protein;																		ATACACGGCGGAGTCCTCCTG	0.557000														46			5		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964349	109964349	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:109964349T>C	uc010ywt.1	+	1	793	c.793T>C	c.(793-795)Tat>Cat	p.Y265H		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	265	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AAAAGCACTTTATGATTTCGA	0.607000														14			8		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554278	6554278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:6554278C>T	uc001qod.3	+	0	228	c.17C>T	c.(16-18)cCc>cTc	p.P6L	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	6					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGGCCACATCCCTGGTGGCTG	0.647000														8			8		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964918	117964918	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:117964918T>C	uc001two.2	-	12	1777	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	603					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGATTTCCTTCCAAGCTGT	0.438000														74			61		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511204	169511204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:169511204G>A	uc001ggg.1	-	12	3269	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1042	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGAGATAAAGGAGCATGGTGT	0.398000														192			58		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041297	39041297	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:39041297G>A	uc002hvl.3	-	0	199	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	47	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCTGGAGTTGGAGATGCGGA	0.597000														47			27		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107691493	107691493	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:107691493G>A	uc011lht.2	+	2	378	c.279G>A	c.(277-279)caG>caA	p.Q93Q	OXR1_uc022azp.1_Silent_p.Q92Q|OXR1_uc003ymf.3_Silent_p.Q92Q|OXR1_uc011lhu.2_Silent_p.Q85Q|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Silent_p.Q25Q|OXR1_uc003ymi.1_Silent_p.Q4Q	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	93					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TGTCTTTTCAGAAACCTAAAG	0.328000														35			13		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														165			7		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507726	18507726	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18507726C>T	uc002niw.3	-	0	690	c.48G>A	c.(46-48)cgG>cgA	p.R16R	LRRC25_uc002nix.3_Silent_p.R16R	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	16						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTCTGACTCCCGCAGCAGCA	0.622000														24			25		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156362	155156362	+	Missense_Mutation	SNP	C	T	T	rs143523763		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:155156362C>T	uc003inw.2	-	24	8077	c.8077G>A	c.(8077-8079)Gaa>Aaa	p.E2693K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2693					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)		ACATCAGTTTCCCCAGATAGG	0.547000														42			25		0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89695273	89695273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:89695273C>T	uc003kjo.3	-	3	487	c.362G>A	c.(361-363)aGg>aAg	p.R121K		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	121	EF-hand 3.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TCGCAAATTCCTCAAGCTTAT	0.373000														19			27		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233974	43233974	+	Missense_Mutation	SNP	C	T	T	rs151272583		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:43233974C>T	uc002oue.3	-	3	1076	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCACCATATCGGTCCTGTAT	0.483000														126			69		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053535	117053535	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:117053535G>A	uc011mtp.2	-	4	661	c.528C>T	c.(526-528)ttC>ttT	p.F176F	KLHL13_uc004eqk.3_Silent_p.F122F|KLHL13_uc004eql.3_Silent_p.F173F|KLHL13_uc011mtn.2_Silent_p.F13F|KLHL13_uc011mto.2_Silent_p.F167F|KLHL13_uc011mtq.2_Silent_p.F157F|KLHL13_uc004eqm.3_Silent_p.F131F|KLHL13_uc022cde.1_Silent_p.F157F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	173					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAATCTGTAGGAAACTGGCAG	0.383000														6			40		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970542	160970542	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:160970542G>A	uc009wtt.3	-	3	537	c.267C>T	c.(265-267)ttC>ttT	p.F89F	F11R_uc010pjv.2_Intron|F11R_uc010pjw.2_Silent_p.F93F|F11R_uc001fxf.4_Silent_p.F89F	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	89	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CAGTTGGCAAGAAGGTCACCC	0.542000														44			54		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503324	110503324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:110503324G>A	uc003yne.3	+	60	10212	c.10108G>A	c.(10108-10110)Ggg>Agg	p.G3370R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3370					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)			CTTTACAGTGGGGGAAGGTAA	0.393000										HNSCC(38;0.096)				74			24		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34647265	34647265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:34647265C>T	uc010ucc.2	+	6	1788	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	C15orf55_uc010ucd.2_Missense_Mutation_p.S459F|C15orf55_uc001zif.3_Missense_Mutation_p.S441F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	441						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GATCTGCTGTCCCCAGAAAAA	0.463000			T	"""BRD3, BRD4"""	lethal midline carcinoma									63			44		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977779	70977779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:70977779G>A	uc002ezr.3	-	41	6753	c.6602C>T	c.(6601-6603)aCc>aTc	p.T2201I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2202										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATCAGCCCGGTCTCGCCTCC	0.617000														15			18		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75187946	75187946	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:75187946G>A	uc009xrh.3	-	2	239	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	MSS51_uc001juc.3_Silent_p.L33L|MSS51_uc001jud.3_Silent_p.L33L|MSS51_uc009xrg.3_5'UTR	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	33							zinc ion binding										GAGGGGGTCAGAGGCACAGGG	0.552000														24			30		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:190067595C>T	uc001gse.1	-	7	2086	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W516*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	618						extracellular region		p.W618C(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000														251			148		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357276	149357276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:149357276G>A	uc003ilj.4	-	1	1100	c.737C>T	c.(736-738)tCc>tTc	p.S246F	NR3C2_uc003ilk.4_Missense_Mutation_p.S246F|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	246	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S246C(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GTGCGACCTGGAGCCTCGATT	0.537000														40			41		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335762	127335762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:127335762C>T	uc003ejp.3	+	9	1631	c.1574C>T	c.(1573-1575)cCt>cTt	p.P525L	MCM2_uc011bkm.2_Missense_Mutation_p.P395L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.P478L	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	525	MCM.				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|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGCGGAGACCCTGGCACAGCG	0.597000														91			52		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45716284	45716284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:45716284G>A	uc002zei.2	+	12	1649	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.E311K|AIRE_uc010gpr.2_Missense_Mutation_p.E311K	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	508					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGCCAGTCACGAGCCCGCTCT	0.662000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					71			29		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026812	182026812	+	Missense_Mutation	SNP	C	T	T	rs141227760	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:182026812C>T	uc001goz.3	-	1	542	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZNF648_uc021pfu.1_Missense_Mutation_p.E112K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E112D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTGGGTCTCGTTGATCTTT	0.547000														100			28		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935709	166935709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:166935709C>T	uc003irh.2	+	7	1686	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	TLL1_uc021xud.1_Missense_Mutation_p.P347S|TLL1_uc011cjn.2_Missense_Mutation_p.P347S|TLL1_uc011cjo.2_Missense_Mutation_p.P171S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	347	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTATAGATGTCCAGGTATTGC	0.453000														64			58		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095994	101095994	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:101095994G>A	uc011mrk.1	-	7	834	c.474C>T	c.(472-474)ttC>ttT	p.F158F	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	158					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCACCTCAGGGAAATTTCTTT	0.483000														25			82		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				13			100		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90002069	90002069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:90002069C>T	uc003kju.3	+	37	8684	c.8588C>T	c.(8587-8589)aCc>aTc	p.T2863I	GPR98_uc003kjt.3_Missense_Mutation_p.T569I|GPR98_uc003kjv.3_Missense_Mutation_p.T463I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2863					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)		GTCACATATACCACGGTTCCT	0.348000														9			16		0	0	1	0	0
C7orf53	286006	broad.mit.edu	37	7	112129956	112129956	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:112129956C>T	uc011kmq.2	+	3	483	c.348C>T	c.(346-348)atC>atT	p.I116I	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Silent_p.I116I	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	116						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						ATAACATGATCGTAAAGCGAC	0.373000														25			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393040	179393040	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:179393040G>T	uc021vsy.1	-	309	99859	c.99634C>A	c.(99634-99636)Cgt>Agt	p.R33212S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R26907S|TTN_uc021vta.1_Missense_Mutation_p.R26840S|TTN_uc021vtb.1_Missense_Mutation_p.R26715S|TTN_uc002umq.3_Missense_Mutation_p.R229S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34139							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)			CACTGGCCACGGAAATTTTTG	0.428000														70			4		1	1	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158686990	158686990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:158686990G>A	uc021pbn.1	-	0	916	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACTTTTTGAAGACAGAACAGT	0.383000														91			69		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430207	190430207	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:190430207C>T	uc002uqp.4	-	5	984	c.633G>A	c.(631-633)tgG>tgA	p.W211*		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	211					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	p.G210R(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATACCAAGTTCCATCCCGAAA	0.488000														29			45		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888302	191888302	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:191888302C>T	uc003fsx.3	-	3	1384	c.558G>A	c.(556-558)ggG>ggA	p.G186G	FGF12_uc003fsy.3_Silent_p.G124G	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	186					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCACTCTGTTCCCCTTCATAA	0.423000														74			109		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277348	186277348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:186277348G>A	uc001gru.4	+	6	2548	c.2497G>A	c.(2497-2499)Gag>Aag	p.E833K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E792K|PRG4_uc009wyl.3_Missense_Mutation_p.E740K|PRG4_uc009wym.3_Missense_Mutation_p.E699K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	833	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.K832K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TACCCCCAAGGAGCCTGCACC	0.582000														166			161		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2133790	2133790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:2133790G>A	uc002con.3	+	32	4084	c.3978G>A	c.(3976-3978)atG>atA	p.M1326I	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.M1303I|TSC2_uc002coo.3_Missense_Mutation_p.M1259I|TSC2_uc010uvv.2_Missense_Mutation_p.M1223I|TSC2_uc010uvw.2_Missense_Mutation_p.M1211I|TSC2_uc002cop.3_Missense_Mutation_p.M1082I|TSC2_uc002coq.3_Missense_Mutation_p.M101I	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1326					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTAGGCATGGACAGGCGCA	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					23			9		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40270412	40270412	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:40270412G>A	uc002hyx.2	-	6	1143	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	361					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCTCCAGCATGGACAGGAATC	0.597000														43			39		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825533	26825533	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:26825533C>T	uc001zbb.3	-	6	886	c.783G>A	c.(781-783)agG>agA	p.R261R	GABRB3_uc021sgg.1_Silent_p.R134R|GABRB3_uc021sgh.1_Silent_p.R120R|GABRB3_uc001zaz.3_Silent_p.R205R|GABRB3_uc001zba.3_Silent_p.R205R	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	205					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAGCTCAATCCTTTCCACTC	0.547000														44			29		0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38463714	38463714	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:38463714G>T	uc003auq.3	+	4	676	c.286G>T	c.(286-288)Gag>Tag	p.E96*	PICK1_uc003aur.3_Nonsense_Mutation_p.E96*|PICK1_uc003aus.3_Nonsense_Mutation_p.E96*|PICK1_uc003aut.3_Nonsense_Mutation_p.E96*	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	96	PDZ.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CTTCCAGGGGGAGGTGACCAT	0.602000														4			52		1.56241e-48	1.59826e-48	1	1	0
NUB1	51667	broad.mit.edu	37	7	151074236	151074236	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:151074236G>A	uc003wjx.3	+	14	1861	c.1845G>A	c.(1843-1845)ctG>ctA	p.L615L	NUB1_uc003wjw.3_Silent_p.L577L	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	591					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTCAACTCTGGAAGATGAAG	0.393000														2			3		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133312044	133312044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:133312044G>A	uc001ukx.2	-	8	1715	c.1648C>T	c.(1648-1650)Ctt>Ttt	p.L550F	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.L488F	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	550						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACGTGGTGAAGGAAGCCTGCT	0.527000														47			32		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672013	26672013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:26672013G>A	uc001bmd.4	-	1	1286	c.1136C>T	c.(1135-1137)cCc>cTc	p.P379L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCGGGCCCCGGGGTGAGTGGG	0.647000														6			31		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187516857	187516857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:187516857G>A	uc003izf.3	-	25	13312	c.13124C>T	c.(13123-13125)tCg>tTg	p.S4375L	FAT1_uc010isn.3_5'UTR	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4375					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCATCGCACGATTCGGACTG	0.512000										HNSCC(5;0.00058)				39			35		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682665	65682665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr15:65682665G>A	uc002aou.1	-	12	2446	c.2236C>T	c.(2236-2238)Cag>Tag	p.Q746*	IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q334*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	746						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCCCCTCTGGATAGGCATG	0.498000														18			12		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886706	3886706	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:3886706G>A	uc003bpt.4	+	1	1142	c.381G>A	c.(379-381)gaG>gaA	p.E127E	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.E127E	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	127						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCATTTGGAGGAAAATCAGA	0.418000														27			15		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115581954	115581954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:115581954C>T	uc003vhj.2	-	6	909	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TFEC_uc003vhm.2_Missense_Mutation_p.R152Q|TFEC_uc003vhk.2_Missense_Mutation_p.R190Q|TFEC_uc003vhl.4_Missense_Mutation_p.R190Q|TFEC_uc011kmw.2_Missense_Mutation_p.R309Q	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AACCTGAATCCGAAGTAGAAG	0.398000														24			55		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096889	73096889	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:73096889C>T	uc002jmr.3	+	4	1503	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	SLC16A5_uc002jmt.3_Silent_p.F377F|SLC16A5_uc002jmu.3_Silent_p.F377F|SLC16A5_uc010wrt.2_Silent_p.F417F	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	377					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTTGCTTTCCTCATCTCCC	0.597000														9			5		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789585	48789585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:48789585C>T	uc002pil.1	+	5	1201	c.704C>T	c.(703-705)tCc>tTc	p.S235F	ZNF114_uc010elv.1_Missense_Mutation_p.S235F|ZNF114_uc002pim.1_Missense_Mutation_p.S235F|ZNF114_uc002pin.2_Missense_Mutation_p.S201F	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGACGGATCCCTTAGGGCA	0.473000														78			25		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:42299711C>T	uc021wwk.1	-	2	354	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	CCK_uc003cld.1_Missense_Mutation_p.R76Q	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.R76Q(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GATGGACATTCGTCCAGAAGG	0.517000														45			46		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102894633	102894633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:102894633C>T	uc001ylw.2	+	6	1224	c.998C>T	c.(997-999)tCg>tTg	p.S333L	TECPR2_uc010awl.3_Missense_Mutation_p.S333L|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	333							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGTCTGTTTCGTGCACAGAA	0.323000														14			12		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721443	10721443	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr16:10721443G>A	uc002czz.1	-	6	1527	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	485					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCGGTGCTCAGGTGTGGCCCA	0.552000														45			57		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144135968	144135968	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:144135968A>T	uc003ijb.3	+	8	3373	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	USP38_uc003ija.4_Nonsense_Mutation_p.K947*|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	947					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCTTTTGTATAAAAAACAGCA	0.368000														18			18		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47504342	47504342	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:47504342C>T	uc001cqt.3	+	6	1036	c.786C>T	c.(784-786)atC>atT	p.I262I	CYP4X1_uc001cqr.3_Silent_p.I261I|CYP4X1_uc001cqs.3_Silent_p.I197I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	262						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATACAATAATCCAGGAAAGAA	0.388000														4			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:2813131C>T	uc022aqr.1	-	63	10364	c.9974G>A	c.(9973-9975)gGa>gAa	p.G3325E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2655E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000														30			38		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319199	43319199	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:43319199C>A	uc002yzw.3	-	12	2075	c.1833G>T	c.(1831-1833)atG>atT	p.M611I	C2CD2_uc002yzs.3_Missense_Mutation_p.M80I|C2CD2_uc002yzt.3_Missense_Mutation_p.M227I|C2CD2_uc002yzu.3_Missense_Mutation_p.M443I|C2CD2_uc002yzv.3_Missense_Mutation_p.M456I	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	611						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCAAGACACTCATGGAGCTCT	0.632000														47			43		3.76604e-16	3.83643e-16	1	1	0
HADHB	3032	broad.mit.edu	37	2	26502047	26502047	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:26502047C>T	uc002rgz.3	+	8	926	c.675C>T	c.(673-675)caC>caT	p.H225H	HADHB_uc010ykv.2_Silent_p.H203H|HADHB_uc010ykw.2_Silent_p.H210H|HADHB_uc010ykx.2_Silent_p.H151H	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	225					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGGCCACTCTGCAGACC	0.537000														93			40		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122399901	122399901	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:122399901C>T	uc003efq.4	+	0	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCCTGGTGTTCTTCTACCCGG	0.672000														40			17		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113730372	113730372	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr13:113730372G>A	uc001vsu.3	+	11	1572	c.1572G>A	c.(1570-1572)caG>caA	p.Q524Q	MCF2L_uc001vsq.3_Silent_p.Q524Q|MCF2L_uc010tjr.2_Silent_p.Q467Q|MCF2L_uc001vsr.3_Silent_p.Q471Q|MCF2L_uc001vss.4_Silent_p.Q465Q|MCF2L_uc010tjs.2_Silent_p.Q465Q|MCF2L_uc001vst.1_Silent_p.Q429Q	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	497					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCCTCCAGGAAATCGAGA	0.522000														70			16		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830121	26830121	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr22:26830121C>T	uc003acg.2	+	1	937	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	180					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCTATTTCTCCCGGGACGCAC	0.587000														3			34		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933093	44933093	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:44933093G>A	uc002oze.1	-	5	2297	c.1863C>T	c.(1861-1863)gtC>gtT	p.V621V	ZNF229_uc010ejk.1_Silent_p.V275V|ZNF229_uc010ejl.1_Silent_p.V615V	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCCAGTGTGGACCCTCTGAT	0.542000														67			39		0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70331331	70331331	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chrX:70331331C>G	uc004dyw.2	-	0	151	c.59G>C	c.(58-60)gGa>gCa	p.G20A	IL2RG_uc004dyv.2_5'Flank|IL2RG_uc004dyx.2_5'UTR	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	20					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CAGCCCCACTCCCAGCAGGGG	0.552000									Severe Combined Immunodeficiency, X-linked					4			22		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067206	102067206	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:102067206G>A	uc001tii.3	+	24	2733	c.2593_splice	c.e24-1	p.G865_splice	MYBPC1_uc001tig.3_Splice_Site_p.G872_splice|MYBPC1_uc010svr.2_Splice_Site_p.G847_splice|MYBPC1_uc010svs.2_Splice_Site_p.G865_splice|MYBPC1_uc001tij.3_Splice_Site_p.G847_splice|MYBPC1_uc010svt.2_Splice_Site_p.G835_splice|MYBPC1_uc010svu.2_Splice_Site_p.G828_splice|MYBPC1_uc001tik.3_Splice_Site_p.G821_splice|MYBPC1_uc001tih.3_Splice_Site_p.G872_splice|MYBPC1_uc010svq.2_Splice_Site_p.G834_splice|MYBPC1_uc001til.3_Splice_Site	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	865	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTTTTTAGGGAAAACCAAGA	0.358000														47			31		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116109	175116109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:175116109C>T	uc001gkl.1	+	18	3915	c.3802C>T	c.(3802-3804)Cct>Tct	p.P1268S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1268	Fibrinogen C-terminal.				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)		ATTCTCCATTCCTTACGTGGA	0.517000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			31		0	0	1	0	0
HINT3	135114	broad.mit.edu	37	6	126296113	126296113	+	Silent	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:126296113T>C	uc003qal.4	+	3	773	c.510T>C	c.(508-510)ttT>ttC	p.F170F	HINT3_uc010keu.3_Silent_p.F61F	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN	Homo sapiens histidine triad nucleotide binding protein 3 (HINT3), mRNA.	170						mitochondrion|nucleolus	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		CCTATTGGTTTATCACAGTGA	0.373000														8			41		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57294155	57294155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:57294155C>T	uc003dio.3	+	17	1816	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S	APPL1_uc010hnb.3_Missense_Mutation_p.P557S|APPL1_uc011bey.1_Missense_Mutation_p.P540S	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	557	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GTTAATTGATCCACAGACACA	0.294000														13			7		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123130398	123130398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:123130398C>T	uc003ieh.3	+	15	1882	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S	KIAA1109_uc003iei.1_Missense_Mutation_p.P367S|KIAA1109_uc010ins.1_Intron|KIAA1109_uc003iej.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	613					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAATTGCCATCCAAATAAGAT	0.353000														8			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100821706	100821706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:100821706G>A	uc003yiv.3	+	43	8231	c.8120G>A	c.(8119-8121)cGa>cAa	p.R2707Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R2682Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2707					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACAGGGGTCGAACTGCTTCT	0.438000														53			20		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251315	35251315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:35251315G>A	uc010edn.1	-	3	779	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	ZNF599_uc010edm.2_Nonsense_Mutation_p.Q94*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCCTTCCTGAATTTTTATT	0.453000														39			67		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509647	156509647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:156509647G>A	uc001fpf.3	-	23	2950	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	959					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTAGAAGAGGTGTTGGTAT	0.488000														69			38		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123485331	123485331	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:123485331G>A	uc001uej.1	-	8	1417	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PITPNM2_uc001uek.1_Silent_p.I406I|PITPNM2_uc009zxu.1_Silent_p.I406I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	406					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACCTCTATGATGTTCAGCT	0.617000														29			15		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924849	188924849	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr4:188924849C>T	uc003izh.1	+	3	1296	c.888C>T	c.(886-888)atC>atT	p.I296I	ZFP42_uc003izi.1_Silent_p.I296I|ZFP42_uc021xvm.1_Silent_p.I296I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	296					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAGCCCACATCCTAACGCATG	0.468000														33			14		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642007	108642007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr12:108642007G>A	uc001tms.3	+	8	2329	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	WSCD2_uc001tmt.3_Missense_Mutation_p.D529N|WSCD2_uc001tmu.3_Missense_Mutation_p.D297N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	529						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTCGAGTATGACCCCTATAC	0.592000														27			31		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18975061	18975061	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr19:18975061G>A	uc002nkg.3	+	20	3165	c.2890_splice	c.e20+1	p.G964_splice	UPF1_uc002nkf.3_Splice_Site_p.G953_splice|UPF1_uc002nkh.3_Splice_Site_p.G208_splice	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	964					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGCAGCCAGGGTGAGTCGCTC	0.617000														63			34		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78656104	78656104	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:78656104A>T	uc003dqe.2	-	28	4731	c.4523T>A	c.(4522-4524)gTg>gAg	p.V1508E	ROBO1_uc003dqc.2_Missense_Mutation_p.V1408E|ROBO1_uc003dqd.2_Missense_Mutation_p.V1463E|ROBO1_uc003dqb.2_Missense_Mutation_p.V1469E|ROBO1_uc010hoh.2_Missense_Mutation_p.V700E|ROBO1_uc011bgl.1_Missense_Mutation_p.V1080E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1508					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)		GAGTTTTGGCACCACTACAGG	0.473000														76			93		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111049	114111049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:114111049C>T	uc003ynu.3	-	4	1012	c.853G>A	c.(853-855)Gat>Aat	p.D285N	CSMD3_uc003ynt.3_Missense_Mutation_p.D245N|CSMD3_uc011lhx.2_Missense_Mutation_p.D285N|CSMD3_uc010mcx.1_Missense_Mutation_p.D285N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	285	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTGAAAATCAGTAAATATG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				30			7		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279479	73279479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:73279479C>T	uc003tzk.2	+	1	265	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	77						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCCAGGCTCTCTGGGCTGG	0.692000														30			51		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:87235216C>T	uc003ydq.1	-	1	900	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_uc003ydr.1_Missense_Mutation_p.E259K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000														58			25		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133337	22133337	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:22133337T>C	uc010tmd.2	+	0	41	c.41T>C	c.(40-42)tTc>tCc	p.F14S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GAATTTGTCTTCTTGGGACTC	0.373000														44			37		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095585	145095585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:145095585C>T	uc011lkw.2	+	2	985	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	SPATC1_uc011lkx.2_Missense_Mutation_p.P295S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	295										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACACCTGCTCCCAAGACGGC	0.657000														71			25		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777764	183777764	+	Silent	SNP	G	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:183777764G>T	uc003fmk.3	+	7	1108	c.1074G>T	c.(1072-1074)ggG>ggT	p.G358G		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	358						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCAGCCCAGGGAGATGCTGTC	0.632000														27			18		1.33834e-09	1.35073e-09	1	1	0
SYNGAP1	8831	broad.mit.edu	37	6	33409463	33409464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:33409463_33409464CC>TT	uc011dri.2	+	12	2416_2417	c.2221_2222CC>TT	c.(2221-2223)ccc>TTc	p.P741F	SYNGAP1_uc010juy.3_Missense_Mutation_p.P726F|SYNGAP1_uc010juz.3_Missense_Mutation_p.P453F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	741					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						GAGTGAGCGGCCCCGGCCTCAG	0.649000														90			7		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756887	71756887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr5:71756887C>T	uc003kce.1	-	1	623	c.437G>A	c.(436-438)gGg>gAg	p.G146E		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGCTTGCCCCCAAAGTGTTC	0.617000														78			52		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84718754	84718754	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr10:84718754A>T	uc021pvc.1	+	5	1234	c.1207A>T	c.(1207-1209)Aaa>Taa	p.K403*	NRG3_uc010qlz.1_Nonsense_Mutation_p.K402*|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Nonsense_Mutation_p.K403*|NRG3_uc001kcp.2_Nonsense_Mutation_p.K182*|NRG3_uc001kcq.2_Nonsense_Mutation_p.K53*|NRG3_uc021pvd.1_Nonsense_Mutation_p.K182*|NRG3_uc021pve.1_Nonsense_Mutation_p.K207*|NRG3_uc021pvf.1_Nonsense_Mutation_p.K53*|NRG3_uc021pvg.1_Nonsense_Mutation_p.K207*|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Nonsense_Mutation_p.K233*|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Nonsense_Mutation_p.K53*|NRG3_uc021pvl.1_Nonsense_Mutation_p.K53*	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	403					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACAAAATGGTAAAAGCTACAG	0.408000														16			13		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951367	10951367	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr21:10951367G>A	uc002yip.1	-	9	713	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F97F|TPTE_uc002yir.1_Silent_p.F77F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	115					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGTCAGTGAAAATTAGGT	0.313000														72			41		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129658543	129658543	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr7:129658543G>A	uc003vpi.3	-	9	1497	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ZC3HC1_uc010lma.3_Silent_p.F306F	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	490					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GAAATATTCGGAATACTTTCC	0.393000														64			11		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704369	129704369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:129704369G>A	uc021zfb.1	+	34	5167	c.5062G>A	c.(5062-5064)Gat>Aat	p.D1688N	LAMA2_uc003qbn.3_Missense_Mutation_p.D1688N|LAMA2_uc003qbo.3_Missense_Mutation_p.D1688N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1688	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1687W(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGCCCGGGATGCAGAAGG	0.443000														5			33		0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99879297	99879297	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:99879297G>A	uc001ygc.3	-	7	1010	c.840C>T	c.(838-840)acC>acT	p.T280T	SETD3_uc001ygd.3_Silent_p.T280T|SETD3_uc021sbn.1_Silent_p.T280T|SETD3_uc001ygf.3_Silent_p.T280T	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	280	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGGCCGTTGGTGTGGTTAC	0.512000														27			16		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896895	36896895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:36896895G>A	uc003cgj.3	-	11	4434	c.4186C>T	c.(4186-4188)Caa>Taa	p.Q1396*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1396					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAAAGTCTTGAATCTCATCA	0.522000														142			65		0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100899	3100899	+	Silent	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr17:3100899G>A	uc002fvd.1	+	0	87	c.87G>A	c.(85-87)gtG>gtA	p.V29V		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TCTTCTTTGTGATTTTTTTGT	0.403000														88			51		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237755070	237755070	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:237755070A>C	uc001hyl.1	+	31	4312	c.4192A>C	c.(4192-4194)Agc>Cgc	p.S1398R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1398	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCAGATTACAGCACAAGCCA	0.388000														12			9		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796673	21796673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:21796673G>A	uc001wag.3	+	17	2986	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E638K|RPGRIP1_uc001wai.3_Missense_Mutation_p.E322K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E471K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E379K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E355K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E313K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	996	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAAGGAGAAGGAGCACCAGGT	0.428000														26			26		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68615584	68615584	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr2:68615584C>T	uc002sen.4	+	5	885	c.723C>T	c.(721-723)ttC>ttT	p.F241F	PLEK_uc010fde.3_Silent_p.F241F	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	241					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGAAGAATTCAGAGGGGTCA	0.433000														88			36		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196733596	196733596	+	Missense_Mutation	SNP	C	T	T	rs148616625	byFrequency	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:196733596C>T	uc003fxk.4	-	13	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	588	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCCAGGGCTCGGAATTGTGG	0.607000														11			14		0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891281	131891281	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr9:131891281C>T	uc004bxm.2	+	4	626	c.339C>T	c.(337-339)gtC>gtT	p.V113V	PPP2R4_uc004bxl.2_Silent_p.V78V|PPP2R4_uc011mbo.2_Silent_p.V113V|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Silent_p.V78V|PPP2R4_uc004bxo.2_Intron|PPP2R4_uc011mbp.2_Silent_p.V49V|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.2_Silent_p.V43V	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	113				V -> L (in Ref. 1; CAA51873, 2; CAA60163 and 3; CAB77601/CAB77602).	ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGAAACTAGTCGCTCTTCTCA	0.547000														9			36		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97731241	97731241	+	RNA	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:97731241C>T	uc021xbo.1	-	4		c.594G>A			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TGATATTCTCCATAGTTGTAT	0.443000														23			25		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056862	22056862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr18:22056862C>T	uc002kvi.3	+	2	609	c.509C>T	c.(508-510)tCg>tTg	p.S170L	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S82L	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	170						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GGATTTTTTTCGGAATGGTAC	0.433000														60			39		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730346	96730346	+	Silent	SNP	C	T	T			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr14:96730346C>T	uc021sbj.1	+	0	327	c.327C>T	c.(325-327)ctC>ctT	p.L109L	BDKRB1_uc001yfh.3_Silent_p.L109L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	109					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GAGCCCTCCTCTGCCGTGTCA	0.567000														42			31		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	4	---	---	2	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr1:147091501delC	uc001epq.3	+	7	2280	c.1540delC	c.(1540-1542)cccfs	p.P514fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	514	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								---	252	---	---	7	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													---	6	---	---	3	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													---	696	---	---	11	---					
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	G	G	rs13252403		TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr8:77617546_77617547insG	uc003yau.2	+	1	1610_1611	c.1223_1224insG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			---	32	---	---	11	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29R-06A-11D-A197-08	TCGA-EE-A29R-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30a5d55e-3ec6-4b70-9c2f-c9adc9ddbc60	1531350c-ba25-4f51-96e3-e4274a0a2c54	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	493	---	---	7	---