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
TULP4	56995	broad.mit.edu	37	6	158735092	158735092	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:158735092C>T	uc003qrf.3	+	0	1401	c.44C>T	c.(43-45)tCc>tTc	p.S15F	TULP4_uc011efo.2_Missense_Mutation_p.S15F|TULP4_uc003qrg.3_Missense_Mutation_p.S15F	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	15					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCAGCGATTCCAACATCCTG	0.478000														59			18		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813137	2813137	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:2813137C>T	uc022aqr.1	-	63	10358	c.9968G>A	c.(9967-9969)tGg>tAg	p.W3323*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.W2653*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.W1215*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3324	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)		CTTTCCTGTCCATTTCATGTC	0.478000														69			11		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10989528	10989528	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:10989528C>T	uc002daj.4	+	2	335	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	CIITA_uc002dai.4_Missense_Mutation_p.P68S|CIITA_uc002dak.4_Missense_Mutation_p.P68S|CIITA_uc002dag.2_Missense_Mutation_p.P68S|CIITA_uc002dah.2_Missense_Mutation_p.P68S|CIITA_uc010bup.1_Missense_Mutation_p.P68S	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	68	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTCCCAGAACCCGACACAGA	0.552000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									44			9		0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979242	230979242	+	Missense_Mutation	SNP	C	T	T	rs150753725		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:230979242C>T	uc001hub.3	-	2	829	c.785G>A	c.(784-786)cGt>cAt	p.R262H	C1orf198_uc009xfh.2_Missense_Mutation_p.R132H|C1orf198_uc001huc.2_Missense_Mutation_p.R45H|C1orf198_uc001hud.2_Missense_Mutation_p.R224H	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	262										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGTCTCTCACGTTCGGTGCT	0.652000														33			13		0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445529	144445529	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:144445529C>T	uc003ijg.3	+	3	891	c.429C>T	c.(427-429)caC>caT	p.H143H		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	143					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTTACCGACACCGTAGAACAG	0.378000														60			13		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	A	A	rs146975565		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:71740883G>A	uc002llf.2	-	9	1426	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S373L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000														156			66		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112024123	112024123	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:112024123C>A	uc004epr.3	-	8	2482	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	AMOT_uc004eps.3_Missense_Mutation_p.G413W|AMOT_uc011mtc.1_Missense_Mutation_p.G62W|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	822					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTAGGCTCCCCTTCCAGCTC	0.493000														90			34		8.16721e-17	8.49622e-17	1	1	0
SOST	50964	broad.mit.edu	37	17	41836103	41836103	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:41836103G>A	uc002iec.1	-	0	54	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	Homo sapiens sclerostin (SOST), mRNA.	3					Wnt receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCCAGTGGGAGCTGCATGGTA	0.602000														48			12		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701831	16701831	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:16701831G>A	uc003jft.4	-	24	3141	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Silent_p.L248L|MYO10_uc011cne.2_Silent_p.L248L|MYO10_uc010itx.3_Silent_p.L514L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	891					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCTCCAGACGGAGGATCTCTT	0.562000														27			11		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136609045	136609045	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:136609045C>T	uc002tuw.3	-	12	1920	c.1844G>A	c.(1843-1845)aGg>aAg	p.R615K		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	615					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	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CACTGTAATCCTCCATGAAGA	0.458000														37			8		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552663	18552663	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:18552663C>T	uc001rdt.3	+	14	2190	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P733S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P511S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	692					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCTCCCTTCCTTTAGTCCT	0.383000														54			17		0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26925890	26925891	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:26925890_26925891GG>AA	uc003zqd.3	-	5	1226_1227	c.801_802CC>TT	c.(799-804)atccga>atTTga	p.R268*	PLAA_uc003zqe.2_Nonsense_Mutation_p.R268*	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	268					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCTGGAAGTCGGATAGTTTGAG	0.391000														70			29		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67548558	67548558	+	Splice_Site	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:67548558C>T	uc021xae.1	-	8	947	c.919_splice	c.e8+1	p.V307_splice	SUCLG2_uc010hob.3_Intron|SUCLG2_uc003dna.4_Splice_Site_p.V307_splice	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	307					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TGCTTCTTACCAAAGCAGGCA	0.353000														55			46		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760550	120760550	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:120760550C>T	uc003eec.4	+	3	431	c.291C>T	c.(289-291)ctC>ctT	p.L97L	STXBP5L_uc011bji.2_Silent_p.L97L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	97					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)		ATATTAGACTCGGGAGACCTG	0.338000														44			7		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170955810	170955810	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:170955810C>T	uc010plz.2	+	9	992	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	C1orf129_uc001ghg.3_Silent_p.L280L|C1orf129_uc009wvy.3_Silent_p.L87L	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	280							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATCCATACTGATATTTAC	0.433000														98			33		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666412	117666412	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:117666412G>A	uc004bji.2	-	3	796	c.504C>T	c.(502-504)atC>atT	p.I168I	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	168					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CCTGTTTTTTGATATGCTTGT	0.428000														172			34		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918697	154918698	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:154918697_154918698GG>AA	uc001ffr.3	-	9	1511_1512	c.1452_1453CC>TT	c.(1450-1455)gaccgg>gaTTgg	p.R485W	PBXIP1_uc001ffs.3_Missense_Mutation_p.R456W|PBXIP1_uc010pep.2_Missense_Mutation_p.R330W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	485					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R485W(2)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGCC	0.554000														354			75		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821166	127821166	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:127821166A>T	uc002tns.2	-	8	1139	c.755T>A	c.(754-756)tTc>tAc	p.F252Y	BIN1_uc010yzf.2_Missense_Mutation_p.F197Y|BIN1_uc002tnt.2_Missense_Mutation_p.F221Y|BIN1_uc010yzg.2_Missense_Mutation_p.F252Y|BIN1_uc002tnu.2_Missense_Mutation_p.F221Y|BIN1_uc002tnv.2_Missense_Mutation_p.F252Y|BIN1_uc002tnw.2_Missense_Mutation_p.F221Y|BIN1_uc002tnx.2_Missense_Mutation_p.F221Y|BIN1_uc002tny.2_Missense_Mutation_p.F252Y|BIN1_uc002tnz.2_Missense_Mutation_p.F221Y|BIN1_uc002toa.2_Missense_Mutation_p.F221Y|BIN1_uc002tob.2_Missense_Mutation_p.F221Y|BIN1_uc002toc.2_Missense_Mutation_p.F221Y	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	252	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCTTGTGGAAGTTTTCCTC	0.632000														26			8		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931559	116931559	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:116931559C>T	uc001ege.3	+	6	1011	c.672C>T	c.(670-672)ccC>ccT	p.P224P	ATP1A1_uc010owv.1_Silent_p.P193P|ATP1A1_uc010oww.2_Silent_p.P224P|ATP1A1_uc010owx.2_Silent_p.P193P	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	224					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AATCAGAACCCCAGACTAGGT	0.443000														95			34		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926210	41926210	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:41926210G>A	uc002iem.3	+	1	397	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CD300LG_uc002iel.2_Missense_Mutation_p.E110K|CD300LG_uc010czk.3_Missense_Mutation_p.E110K|CD300LG_uc010wil.2_Missense_Mutation_p.E110K|CD300LG_uc010czl.3_Missense_Mutation_p.E110K	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	110	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	p.E110K(6)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTGTGGGGTCGAAAAACGGGG	0.592000														86			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046600	9046600	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:9046600C>T	uc002mkp.3	-	4	35235	c.35031G>A	c.(35029-35031)cgG>cgA	p.R11677R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11679	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						AGGGAACAGTCCGAATTGGAA	0.512000														77			22		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643391	142643391	+	Missense_Mutation	SNP	C	T	T	rs61729041		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142643391C>T	uc003wcb.3	-	10	1427	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	406			R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562000														24			13		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:57886005G>A	uc001nml.1	-	0	912	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000														128			15		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903909	4903909	+	Silent	SNP	C	T	T	rs111347642		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4903909C>T	uc010qyp.2	+	0	861	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S286S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCAGCCTCTCTTTGGCAC	0.488000														79			17		0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322407	4322407	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:4322407C>T	uc003ghu.3	+	7	1837	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	ZBTB49_uc003ghv.3_Silent_p.V37V|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.V132V	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GCAGGCATGTCCGCACTCACA	0.507000														45			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729660	13729660	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:13729660G>A	uc003jfd.2	-	68	11813	c.11771C>T	c.(11770-11772)tCa>tTa	p.S3924L	DNAH5_uc003jfc.2_Missense_Mutation_p.S92L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3924					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)					AAGGTCTAATGAGGCACCTCC	0.308000									Kartagener syndrome					58			11		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73009120	73009121	+	Missense_Mutation	DNP	TT	AG	AG			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:73009120_73009121TT>AG	uc002avd.3	+	5	696_697	c.358_359TT>AG	c.(358-360)ttt>AGt	p.F120S	BBS4_uc010ukv.2_Missense_Mutation_p.F100S|BBS4_uc002avb.3_Missense_Mutation_p.F112S|BBS4_uc002avc.3_5'UTR	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	112	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTTTTACAGATTTCTTTTGGGA	0.312000									Bardet-Biedl syndrome					37			8		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61574223	61574223	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:61574223C>T	uc002jau.2	+	23	3602	c.3568C>T	c.(3568-3570)Ccc>Tcc	p.P1190S	ACE_uc010wpj.2_Missense_Mutation_p.P575S|ACE_uc010ddv.2_Missense_Mutation_p.P417S|ACE_uc002jav.2_Missense_Mutation_p.P616S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.P395S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1190	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACGGGCCAGCCCAACATGAG	0.642000														42			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641129	179641129	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179641129C>T	uc021vsy.1	-	27	5687	c.5462G>A	c.(5461-5463)aGa>aAa	p.R1821K	TTN_uc021vsz.1_Missense_Mutation_p.R1775K|TTN_uc021vta.1_Missense_Mutation_p.R1775K|TTN_uc021vtb.1_Missense_Mutation_p.R1775K|TTN_uc002unb.2_Missense_Mutation_p.R1821K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1821							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)			ATGAGCCATTCTCTCTAATTC	0.413000														164			33		0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30075932	30075932	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:30075932G>T	uc003npg.1	-	5	891	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	261						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTGAGAAACTGAAACTCTTCA	0.458000														42			9		1.12685e-05	1.15581e-05	1	1	0
C2orf55	343990	broad.mit.edu	37	2	99454592	99454592	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:99454592C>T	uc002szf.1	-	2	523	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	77										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCCAGCTCATCCTCGGAGTCG	0.507000														51			15		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623686	100623686	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:100623686G>A	uc002taf.3	-	4	630	c.486C>T	c.(484-486)ccC>ccT	p.P162P	AFF3_uc002tag.3_Silent_p.P137P|AFF3_uc010fiq.1_Silent_p.P137P|AFF3_uc010yvr.1_Silent_p.P291P|AFF3_uc002tah.1_Silent_p.P162P|AFF3_uc010fir.1_Silent_p.P214P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	137					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						TCTGCTGCACGGGGACAGCTG	0.542000														72			23		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133427	89133427	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:89133427C>T	uc001pct.3	-	9	1206	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	NOX4_uc009yvr.3_Missense_Mutation_p.E298K|NOX4_uc001pcu.3_Missense_Mutation_p.E249K|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.E323K|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.E157K|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.E299K|NOX4_uc009yvq.3_Missense_Mutation_p.E299K	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	323	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.M322I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTCGGATTTCCATGACATCT	0.413000														114			17		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704744	41704744	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:41704744C>T	uc002opw.3	+	4	840	c.785C>T	c.(784-786)tCg>tTg	p.S262L	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	262					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGATGCTTCGGGCCCCGCA	0.652000														57			21		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872844	51872844	+	Silent	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:51872844G>T	uc002xwo.3	+	1	3734	c.2847G>T	c.(2845-2847)ctG>ctT	p.L949L	TSHZ2_uc021wex.1_Silent_p.L946L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	949					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AATCTCACCTGGGTTTCCAAA	0.502000														80			33		1.62565e-12	1.68714e-12	1	1	0
NBAS	51594	broad.mit.edu	37	2	15557752	15557752	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:15557752G>A	uc002rcc.1	-	23	2688	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	888										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATGTTTCCAGAGTAACCAAA	0.398000														43			16		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85411561	85411561	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:85411561G>A	uc010rth.2	-	14	2739	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	SYTL2_uc010rtg.2_Missense_Mutation_p.P785S|SYTL2_uc010rti.2_Missense_Mutation_p.P760S|SYTL2_uc010rtj.2_Missense_Mutation_p.P752S|SYTL2_uc001pav.3_Missense_Mutation_p.P226S|SYTL2_uc010rte.2_Missense_Mutation_p.P186S|SYTL2_uc001pax.3_Missense_Mutation_p.P226S|SYTL2_uc001paz.3_Missense_Mutation_p.P105S|SYTL2_uc001pay.3_Missense_Mutation_p.P215S|SYTL2_uc001paw.3_Missense_Mutation_p.P186S|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Missense_Mutation_p.P1082S|SYTL2_uc001pbb.3_Missense_Mutation_p.P1122S|SYTL2_uc001pbc.3_Missense_Mutation_p.P1106S|SYTL2_uc010rtf.2_Missense_Mutation_p.P602S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	784	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TACATACCAGGGACTGGCTCT	0.428000														81			8		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796455	109796455	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:109796455C>T	uc003ymy.1	-	1	978	c.873G>A	c.(871-873)ctG>ctA	p.L291L	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.L291L	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	291					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGGACAGTTCCAGAGTGTTTT	0.403000														66			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11608448	11608448	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11608448C>G	uc002gne.3	+	25	5566	c.5498C>G	c.(5497-5499)tCc>tGc	p.S1833C	DNAH9_uc010coo.3_Missense_Mutation_p.S1127C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1833	AAA 1 (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)		TTTTTGTATTCCTATGAGTAC	0.517000														70			22		0	0	1	0	0
FGF4	2249	broad.mit.edu	37	11	69588128	69588128	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:69588128C>T	uc001opg.1	-	2	889	c.570G>A	c.(568-570)ggG>ggA	p.G190G	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	Homo sapiens fibroblast growth factor 4 (FGF4), mRNA.	190					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	ACACTCGGTTCCCCTTCTTGG	0.592000														76			13		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287467	62287467	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:62287467C>T	uc001ntl.3	-	4	14722	c.14422G>A	c.(14422-14424)Gac>Aac	p.D4808N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4808					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCGATGTCGGCCTTGGGC	0.522000														247			72		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028264	21028264	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21028264C>T	uc010sil.2	+	6	888	c.823C>T	c.(823-825)Cca>Tca	p.P275S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P275S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P275S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.I274L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTTCCATACCATTTTTTTT	0.363000														129			18		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525692	84525692	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:84525692G>A	uc004eeq.3	+	9	2168	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	ZNF711_uc004eep.3_Missense_Mutation_p.V382M|ZNF711_uc004eeo.3_Missense_Mutation_p.V382M|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	382					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCCCCTCACAGTGTACCCTTG	0.338000														18			4		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635077	6635077	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:6635077G>A	uc001ant.3	+	2	981	c.885G>A	c.(883-885)aaG>aaA	p.K295K	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.K217K	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	295					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGACTGGCAAGGTGTGGGTCG	0.642000														64			17		0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71193193	71193193	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:71193193C>G	uc002jjg.3	+	2	751	c.715C>G	c.(715-717)Cag>Gag	p.Q239E	COG1_uc002jjf.1_Missense_Mutation_p.Q239E|COG1_uc002jjh.3_Missense_Mutation_p.Q239E	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	239					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGCAACTATTCAGAAACTTCT	0.532000														85			8		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229661690	229661690	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:229661690G>A	uc001htp.4	-	9	1942	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	633	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTGAGAGGAGAACACCCT	0.418000														241			89		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263189	144263189	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:144263189C>T	uc003qjv.3	-	2	2030	c.764G>A	c.(763-765)aGc>aAc	p.S255N	PLAGL1_uc003qjx.3_Missense_Mutation_p.S255N|PLAGL1_uc003qjy.3_Missense_Mutation_p.S255N|PLAGL1_uc010khl.3_Missense_Mutation_p.S255N|PLAGL1_uc010khm.3_Missense_Mutation_p.S255N|PLAGL1_uc003qjz.3_Missense_Mutation_p.S255N|PLAGL1_uc003qka.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkb.3_Missense_Mutation_p.S203N|PLAGL1_uc003qkc.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkd.3_Missense_Mutation_p.S203N|PLAGL1_uc003qke.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkf.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkg.3_Missense_Mutation_p.S203N|PLAGL1_uc003qkh.3_Missense_Mutation_p.S255N|PLAGL1_uc003qki.3_Missense_Mutation_p.S203N|PLAGL1_uc003qkj.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkk.3_Missense_Mutation_p.S203N|PLAGL1_uc003qkl.3_Missense_Mutation_p.S203N|PLAGL1_uc003qkm.3_Missense_Mutation_p.S255N|PLAGL1_uc010khn.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkn.3_Missense_Mutation_p.S203N|PLAGL1_uc003qko.3_Missense_Mutation_p.S255N|PLAGL1_uc003qkp.3_Missense_Mutation_p.S203N|PLAGL1_uc003qjw.3_Missense_Mutation_p.S203N|PLAGL1_uc021zgj.1_Missense_Mutation_p.S203N	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	255					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S254R(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		AGCTGGCAAGCTACTTGCAAG	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			15		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059676	248059676	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:248059676G>A	uc010pzb.2	+	0	788	c.788G>A	c.(787-789)gGa>gAa	p.G263E	OR2W3_uc001idp.1_Missense_Mutation_p.G263E	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCAGCCAGGAGCCAGTTCT	0.527000														113			30		0	0	1	0	0
HCG27	253018	broad.mit.edu	37	6	31170608	31170608	+	RNA	SNP	C	T	T	rs9263872	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:31170608C>T	uc011dni.2	+	1		c.583C>T								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		TCCTTCCTGCCGCACCTTCTG	0.522000														142			9		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101540501	101540501	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:101540501G>A	uc003dvn.3	+	7	2020	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	FAM55C_uc010hpn.3_Silent_p.R461R	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	461						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GGCGGCTCAGGAACATCCGTC	0.582000														86			12		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	806426	806426	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:806426T>G	uc002lpr.2	+	8	1017	c.911T>G	c.(910-912)gTc>gGc	p.V304G	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.V330G|PTBP1_uc002lpq.2_Missense_Mutation_p.V323G	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	304					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTTCCGAACGTCCACGGCGCC	0.721000														12			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163910	150163910	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:150163910G>A	uc003whj.3	+	1	454	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	42						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.S41N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGTTCAGTGATCAGACAGT	0.498000														146			77		0	0	1	0	0
PAIP2B	400961	broad.mit.edu	37	2	71429639	71429639	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:71429639C>T	uc002shu.2	-	1	268	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA.	27					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						ATGGGTTTTCCTTTTCATCGT	0.398000														104			14		0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156946	119156946	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:119156946C>T	uc003eck.1	-	5	943	c.580G>A	c.(580-582)Ggt>Agt	p.G194S	TMEM39A_uc003ecl.1_Missense_Mutation_p.G42S	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	194						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACATAAACACCAAACCTGTAA	0.363000														35			6		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117650555	117650555	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:117650555G>A	uc003pxp.1	-	31	5502	c.5303C>T	c.(5302-5304)tCa>tTa	p.S1768L	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1768	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S1768L(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACTGTATTGAATTTTTACT	0.328000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									80			27		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35121296	35121296	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:35121296T>C	uc003teq.1	-	21	2417	c.1310A>G	c.(1309-1311)aAc>aGc	p.N437S	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TAAGGGAGGGTTAGCTGCATT	0.423000														33			10		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968047	4968047	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4968047G>A	uc010qys.2	-	0	284	c.284C>T	c.(283-285)tCa>tTa	p.S95L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95L(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCATTGGATGAAATTTCAGG	0.423000														265			31		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48547507	48547507	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:48547507C>T	uc003toq.2	+	49	13410	c.13386C>T	c.(13384-13386)atC>atT	p.I4462I	ABCA13_uc010kys.1_Silent_p.I1537I|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.I192I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4462					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTCTGCATCGTGCTGGGAT	0.567000														27			5		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109983754	109983754	+	Splice_Site	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:109983754C>A	uc003ptn.2	-	6	521	c.444_splice	c.e6+1	p.K148_splice	AKD1_uc003ptr.4_Splice_Site_p.K148_splice|AKD1_uc003pts.2_Splice_Site	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	148					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ATATCCTTACCTTTATATTGA	0.279000														51			16		6.31663e-08	6.49414e-08	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884838	228884838	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:228884838C>T	uc002vpq.2	-	6	779	c.732G>A	c.(730-732)ttG>ttA	p.L244L	SPHKAP_uc002vpp.2_Silent_p.L244L|SPHKAP_uc010zlx.1_Silent_p.L244L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	244						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACTTTCCAAAACATTGG	0.373000														125			62		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781756	107781756	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:107781756G>A	uc003ymm.4	-	0	717	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	221					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTACTGGGAGGGCAAGGGGC	0.587000														218			56		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:55322235G>A	uc010rig.2	+	0	453	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGGCTGCATGATGCAGCTCT	0.483000										HNSCC(20;0.049)				152			36		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973793	22973793	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:22973793G>A	uc001bgc.4	+	2	358	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C1QC_uc001bga.4_Silent_p.G85G	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	85	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCATCCTGGGAAAAATGGCC	0.622000														52			14		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34035136	34035136	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:34035136C>T	uc001bxm.1	-	51	8146	c.7969G>A	c.(7969-7971)Gga>Aga	p.G2657R	CSMD2_uc001bxn.1_Missense_Mutation_p.G2659R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2659	Sushi 17.					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)				GGGAGCTCTCCACAGGAGATG	0.522000														49			11		0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355245	42355245	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:42355245C>T	uc002xld.3	-	0	398	c.90G>A	c.(88-90)agG>agA	p.R30R	GTSF1L_uc002xlc.3_Silent_p.R30R	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	30							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTTCTTTCTCCTGCACGATG	0.493000														186			31		0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54708911	54708911	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:54708911T>C	uc001cxe.3	-	9	1124	c.713A>G	c.(712-714)aAc>aGc	p.N238S	SSBP3_uc001cxf.3_Missense_Mutation_p.N218S|SSBP3_uc001cxg.3_Missense_Mutation_p.N211S	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA.	238	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						gcCTTACATGTTAATCCCGGG	0.587000														210			40		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25636062	25636062	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:25636062T>A	uc011awl.2	+	6	1130	c.1064T>A	c.(1063-1065)tTg>tAg	p.L355*	RARB_uc003cdi.2_Nonsense_Mutation_p.L236*|RARB_uc003cdh.3_Nonsense_Mutation_p.L348*	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	355	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P347fs*26(1)|p.P354fs*26(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAAGAACCATTGCTGGAAGCA	0.393000														63			12		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134714072	134714072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:134714072C>T	uc004eyw.4	+	14	2731	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	DDX26B_uc004eyx.4_Nonsense_Mutation_p.R391*	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	790										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGAAGTTCGAAAGTTTGG	0.373000														60			32		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865578	118865578	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:118865578G>A	uc003ecb.1	+	0	582	c.542G>A	c.(541-543)aGa>aAa	p.R181K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R181K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	181										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCGACCACAGAATGGCAGGC	0.522000														97			17		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325265	77325265	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:77325265C>T	uc002ffc.4	-	20	3719	c.3300G>A	c.(3298-3300)aaG>aaA	p.K1100K		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1100	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K1100N(2)		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						GATTTGGTTTCTTAATATTAC	0.522000														218			30		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					79			51		0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293649	89293649	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:89293649C>T	uc021tms.1	+	6	1292	c.953C>T	c.(952-954)tCc>tTc	p.S318F	ZNF778_uc010vpg.2_Missense_Mutation_p.S53F|ZNF778_uc002fmv.3_Missense_Mutation_p.S290F|ZNF778_uc002fmw.2_Missense_Mutation_p.S248F	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGAAAAGCCTCCCCTGTTTCT	0.488000														45			12		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883656	152883656	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:152883656G>A	uc021ozl.1	+	0	1383	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	IVL_uc001fau.3_Silent_p.K461K	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	461	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGCCAAAGAACCTGGAGC	0.622000														2			2		0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356881	128356881	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:128356881G>A	uc003vno.1	+	1	317	c.264G>A	c.(262-264)agG>agA	p.R88R	FAM71F1_uc010llo.1_5'UTR|FAM71F1_uc011koq.1_Missense_Mutation_p.E13K|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.E10K|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.R88R	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	88										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAAGGGGCAGGAATTGGAGAG	0.567000														30			17		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25471035	25471036	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:25471035_25471036GG>AA	uc002rgc.3	-	6	982_983	c.725_726CC>TT	c.(724-726)gcc>gTT	p.A242V	DNMT3A_uc002rgd.3_Missense_Mutation_p.A242V|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.A53V	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	242	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGGGCTGGCCTCCTCCAC	0.604000			"""Mis, F, N, S"""		AML									81			14		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41983819	41983819	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:41983819G>A	uc003gwk.2	+	0	107	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	4										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AATGGAGGCTGAAAGGCTGCG	0.498000														55			6		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77451003	77451004	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:77451003_77451004GG>AA	uc021sqy.1	-	5	3748_3749	c.3172_3173CC>TT	c.(3172-3174)cct>TTt	p.P1058F	PEAK1_uc002bcn.2_Missense_Mutation_p.P1058F	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1058					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGGATCCCGAGGAGAAAAATCC	0.436000														51			28		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886971	6886971	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:6886971G>A	uc001qqt.4	+	6	1664	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	LAG3_uc001qqu.3_Missense_Mutation_p.G269R	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	439						integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCAACGCTCTGGGAGAGCCCC	0.522000														54			17		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613673	2613673	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:2613673C>T	uc001qkm.2	+	7	1498	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Silent_p.F395F|CACNA1C_uc001qkk.2_Silent_p.F395F|CACNA1C_uc001qkn.2_Silent_p.F395F|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.F131F|CACNA1C_uc009zdy.1_Silent_p.F20F|CACNA1C_uc001qkv.1_5'Flank	NM_001167625	NP_001161097	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 23, mRNA.	395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATCCTTTTTCGTTCTAAATC	0.488000														99			8		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195474130	195474130	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:195474130C>T	uc021xjp.1	-	24	16312	c.16156G>A	c.(16156-16158)Ggg>Agg	p.G5386R	MUC4_uc010hzq.3_Missense_Mutation_p.G243R|MUC4_uc003fuz.3_Missense_Mutation_p.G984R|MUC4_uc003fva.3_Missense_Mutation_p.G866R|MUC4_uc003fvb.3_Missense_Mutation_p.G902R|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G902R|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G895R|MUC4_uc021xjn.1_Missense_Mutation_p.G1075R|MUC4_uc021xjo.1_Missense_Mutation_p.G866R|MUC4_uc021xjg.1_Missense_Mutation_p.G866R|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G950R|MUC4_uc021xjj.1_Missense_Mutation_p.G950R|MUC4_uc021xjk.1_Missense_Mutation_p.G1127R|MUC4_uc021xjl.1_Missense_Mutation_p.G866R|MUC4_uc003fvo.3_Missense_Mutation_p.G1150R|MUC4_uc003fvp.3_Missense_Mutation_p.G1099R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2143					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGAACGTCCCGACCCCCAGC	0.637000														137			8		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731583	141731583	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:141731583G>A	uc003vwy.3	+	12	1628	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	525	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGTTTGATGGAATCTGGATT	0.378000														73			29		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120012322	120012323	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:120012322_120012323CT>TG	uc002tlp.3	+	4	1240_1241	c.1083_1084CT>TG	c.(1081-1086)ctctcc>ctTGcc	p.S362A	STEAP3_uc002tlq.3_Missense_Mutation_p.S372A|STEAP3_uc002tlr.3_Missense_Mutation_p.S362A|STEAP3_uc010fle.3_Missense_Mutation_p.S362A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	362	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AGATCTACCTCTCCCTGGGAGT	0.584000														57			30		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482185	38482185	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:38482185G>A	uc010ive.1	-	19	3138	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	LIFR_uc003jli.2_Missense_Mutation_p.R936C	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	936					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATCAGAGCGATCTTCAGGA	0.453000			T	PLAG1	salivary adenoma									191			83		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347208	57347208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:57347208G>A	uc001cyo.2	+	4	687	c.555G>A	c.(553-555)tgG>tgA	p.W185*		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	185	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGGGGAATGGAGGGAGCTTC	0.458000														115			30		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188217	7188217	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:7188217C>T	uc003bqm.2	+	1	872	c.598C>T	c.(598-600)Cca>Tca	p.P200S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P200S|GRM7_uc003bql.2_Missense_Mutation_p.P200S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	200					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCGCGTGGTGCCACCCGATTC	0.517000														85			17		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35835688	35835688	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:35835688C>T	uc002xgp.3	+	6	1007	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	RPN2_uc010gfw.2_Nonsense_Mutation_p.Q78*|RPN2_uc002xgq.3_Nonsense_Mutation_p.Q203*|RPN2_uc021wdb.1_Nonsense_Mutation_p.Q17*	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	235					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCAGGTCATCCAGCTGATGAA	0.527000														83			23		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303307	153303307	+	Missense_Mutation	SNP	C	T	T	rs147105602		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:153303307C>T	uc001fbo.3	-	8	1123	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R349Q	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	353	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.R353Q(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACAAGGTTCGGGCCACATC	0.562000														120			12		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258334	18258334	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:18258334C>T	uc022asl.1	+	0	821	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NAT2_uc003wyw.1_Missense_Mutation_p.S274F	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTAAGATTTCCTTGGGGAGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					70			17		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400685	10400685	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:10400685C>T	uc002gmo.3	-	31	4544	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1484						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1484*(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAAATAGTTCTGTGCTGAGT	0.383000														31			13		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124153276	124153276	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:124153276G>A	uc003ehg.3	+	16	3073	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	KALRN_uc010hrv.1_Silent_p.E973E|KALRN_uc003ehf.1_Silent_p.E982E|KALRN_uc011bjy.1_Silent_p.E973E|KALRN_uc003ehh.1_Silent_p.E328E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	982					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATGTGCTGAGAAGGTGGCCC	0.562000														73			10		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202571164	202571164	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:202571164C>T	uc001gye.3	-	5	848	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	SYT2_uc010pqb.2_Missense_Mutation_p.G219S|SYT2_uc009xaf.3_Missense_Mutation_p.G49S	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	219	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGAGTTTTGCCCCCAAGCTCC	0.567000														97			15		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562601	61562601	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:61562601C>T	uc010xeu.2	+	3	605	c.272C>T	c.(271-273)cCt>cTt	p.P91L	SERPINB2_uc002ljo.3_Missense_Mutation_p.P91L|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	91					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)	GGTAGTTATCCTGATGCGATT	0.443000														125			41		0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140173983	140173983	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:140173983G>A	uc022bqh.1	+	0	842	c.842G>A	c.(841-843)gGc>gAc	p.G281D	TOR4A_uc004cmn.3_Missense_Mutation_p.G281D	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	281					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GAGCTGCACGGCTTCCTGCAG	0.692000														16			6		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950758	38950758	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:38950758G>A	uc003jlo.2	-	30	3214	c.3192C>T	c.(3190-3192)atC>atT	p.I1064I	RICTOR_uc003jlp.2_Silent_p.I1064I|RICTOR_uc010ivf.2_Silent_p.I779I	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1064					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATCTTCATTGATATCAAGGA	0.353000														133			32		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28908236	28908236	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:28908236G>A	uc002kwp.3	+	3	513	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	101	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGGATCTTTGTCATTAATCA	0.388000														62			10		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:17483187G>A	uc001mnc.3	-	4	891	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_uc010rcy.1_Silent_p.I255I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	255					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTCATGGCGATGGGCAGCT	0.587000														138			17		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79968740	79968740	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:79968740G>A	uc002kcy.3	+	9	1330	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ASPSCR1_uc002kcx.3_Silent_p.E411E|ASPSCR1_uc021ufj.1_Silent_p.E334E|ASPSCR1_uc002kda.3_Silent_p.E334E	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	411	UBX.						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCCAGCGAGACAGGTGGGC	0.692000			T	TFE3	alveolar soft part sarcoma									54			14		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38777207	38777207	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:38777207C>G	uc003gtj.3	-	3	643	c.5G>C	c.(4-6)aGa>aCa	p.R2T	TLR10_uc021xnk.1_Intron|TLR10_uc003gti.3_Missense_Mutation_p.R2T|TLR10_uc021xnl.1_Missense_Mutation_p.R2T|TLR10_uc003gtk.3_Missense_Mutation_p.R2T|TLR10_uc021xnm.1_Missense_Mutation_p.R2T	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	2					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity	p.M1T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCTGATGAGTCTCATTGTATT	0.343000														58			18		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712359	41712359	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:41712359C>T	uc002opw.3	+	8	1536	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	CYP2S1_uc010xvx.2_Missense_Mutation_p.P219L	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	494					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAAGTCCGTCCCACTGACCTT	0.622000														77			30		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081945	97081945	+	Silent	SNP	A	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:97081945A>G	uc004aup.1	-	5	1456	c.1435T>C	c.(1435-1437)Ttg>Ctg	p.L479L		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	479										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CTTAGGGCCAAGAAATCCATC	0.582000														158			64		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354871	114354871	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:114354871G>A	uc001edq.3	-	0	200	c.164C>T	c.(163-165)gCg>gTg	p.A55V	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	55						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACGCGCACCGCTCCGACCTG	0.682000														146			20		0	0	1	0	0
SRP9	6726	broad.mit.edu	37	1	225976980	225976980	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:225976980G>A	uc001hpg.3	+	2	308	c.180G>A	c.(178-180)aaG>aaA	p.K60K	SRP9_uc001hpf.4_Non-coding_Transcript|SRP9_uc001hph.3_3'UTR|SRP9_uc001hpi.4_Non-coding_Transcript	NM_003133	NP_003124	P49458	SRP09_HUMAN	Homo sapiens signal recognition particle 9kDa (SRP9), transcript variant 2, mRNA.	60					SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			endometrium(1)|kidney(1)|skin(1)	3						AAGATGTAAAGAAGATTGAGA	0.348000														32			6		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043420	35043420	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:35043420G>A	uc003zvw.3	+	1	823	c.794G>A	c.(793-795)gGg>gAg	p.G265E	C9orf131_uc003zvu.3_Missense_Mutation_p.G217E|C9orf131_uc003zvv.3_Missense_Mutation_p.G192E|C9orf131_uc003zvx.3_Missense_Mutation_p.G230E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	265										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATCTAGAAGGGATGGCCCCC	0.542000														86			32		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2463909	2463909	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:2463909G>A	uc002wge.1	-	5	2186	c.1698C>T	c.(1696-1698)gtC>gtT	p.V566V	ZNF343_uc010gao.1_Silent_p.V566V|ZNF343_uc002wgd.1_Silent_p.V476V	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCCTCTGGTGGACAAGGAGGA	0.507000														92			23		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655240	247655240	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:247655240G>A	uc001icz.2	+	0	871	c.811G>A	c.(811-813)Ggg>Agg	p.G271R		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCCAAGATCAGGGGAAGTTCC	0.512000														138			48		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274588	3274588	+	Silent	SNP	A	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:3274588A>C	uc002cuj.2	-	4	1124	c.492T>G	c.(490-492)ggT>ggG	p.G164G	ZNF200_uc002cum.3_Silent_p.G163G|ZNF200_uc002cuk.2_Silent_p.G164G|ZNF200_uc010bti.2_Silent_p.G163G|ZNF200_uc002cui.2_Silent_p.G163G|ZNF200_uc002cul.3_Silent_p.G163G	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CAGGATCTTCACCTTCAGGAT	0.413000														49			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011647	21011647	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:21011647G>A	uc010vbe.2	-	42	6320	c.6320C>T	c.(6319-6321)aCc>aTc	p.T2107I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2107	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTGGCTGAGGTTCTGGCAGA	0.517000														71			17		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346355	29346355	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:29346355C>T	uc001zck.3	+	2	472	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	APBA2_uc010azj.2_Missense_Mutation_p.L90F|APBA2_uc010uat.2_Missense_Mutation_p.L90F|APBA2_uc001zcl.3_Missense_Mutation_p.L90F|APBA2_uc010uas.1_Missense_Mutation_p.L90F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	90					nervous system development|protein transport		protein binding	p.G89G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGACGAGGGCCTCCCTGAGGA	0.612000														167			96		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41052595	41052595	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:41052595G>A	uc003jmj.4	-	11	1692	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	401							binding	p.S401Y(2)		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						TGCAAACTGGGAGAAGACATA	0.398000														58			11		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574128	98574128	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:98574128C>T	uc003upp.3	+	53	8170	c.7961C>T	c.(7960-7962)cCa>cTa	p.P2654L	TRRAP_uc011kis.2_Missense_Mutation_p.P2636L|TRRAP_uc003upr.3_Missense_Mutation_p.P2353L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2654					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A2653S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGATAAGTCCATTTCTGTGC	0.552000														64			9		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49935540	49935540	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:49935540G>A	uc001ruh.1	+	2	698	c.438G>A	c.(436-438)aaG>aaA	p.K146K	KCNH3_uc010smj.1_Silent_p.K86K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	146					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACAGATGGAAGGAGACAGGTA	0.602000														202			17		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	437214	437214	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:437214G>A	uc003gaf.4	-	2	1364	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.L348F|ABCA11P_uc010ibe.3_Missense_Mutation_p.L336F	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TGTACGTAAAGGTTTGCGGAC	0.433000														93			11		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582667	228582667	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:228582667G>A	uc001hss.3	-	5	1401	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	TRIM11_uc010pvx.2_Silent_p.F381F	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	382	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AGCTCCCCAGGAAGACCAGGA	0.637000														131			31		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884782	160884782	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:160884782G>A	uc002ube.2	-	5	1258	c.1046C>T	c.(1045-1047)aCc>aTc	p.T349I	PLA2R1_uc010zcp.2_Missense_Mutation_p.T349I|PLA2R1_uc002ubf.3_Missense_Mutation_p.T349I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	349	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATGGCAAGGTGGACTCACA	0.358000														104			30		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718411	142718411	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:142718411C>T	uc022cfm.1	-	0	514	c.514G>A	c.(514-516)Gat>Aat	p.D172N	SLITRK4_uc022cfl.1_Missense_Mutation_p.D172N|SLITRK4_uc004fbx.3_Missense_Mutation_p.D172N|SLITRK4_uc004fby.3_Missense_Mutation_p.D172N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	172						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)					AAAATATTATCAGGAAGGAAT	0.398000														86			40		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062108	216062109	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:216062108_216062109GG>AA	uc001hku.1	-	40	8269_8270	c.7882_7883CC>TT	c.(7882-7884)cca>TTa	p.P2628L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2628	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCTGGACTTGGGATCCCTTCC	0.495000										HNSCC(13;0.011)				74			27		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703151	4703151	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4703151C>T	uc001lzk.2	-	1	1035	c.791G>A	c.(790-792)gGa>gAa	p.G264E	OR51E2_uc021qcr.1_Missense_Mutation_p.G264E	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGCTGTTTCCAAAGCGGTG	0.517000														76			17		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11797724	11797724	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11797724G>A	uc002gne.3	+	58	11385	c.11317G>A	c.(11317-11319)Gag>Aag	p.E3773K	DNAH9_uc010coo.3_Missense_Mutation_p.E3067K|DNAH9_uc002gnf.3_Missense_Mutation_p.E85K|DNAH9_uc010vvh.1_Missense_Mutation_p.E126K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3773					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)		CAATGCAGTGGAGTTGGATTT	0.512000														47			35		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807255	233807255	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:233807255G>A	uc010pxo.1	+	2	1158	c.990G>A	c.(988-990)gtG>gtA	p.V330V		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	330						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)	CTGCCTGCGTGGATGGCCCTG	0.502000														69			13		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144617251	144617251	+	Splice_Site	SNP	A	G	G	rs12057989	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:144617251A>G	uc009wig.1	+	4	466	c.272_splice	c.e4+1	p.R91_splice	NBPF10_uc010oxo.1_Intron|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_Splice_Site_p.R24_splice|NBPF10_uc001eli.3_Intron|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	93										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)		TGAGGAGCTCAGGTGAGGGGA	0.542000														270			47		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914708	32914708	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:32914708C>T	uc001uub.1	+	10	6443	c.6216C>T	c.(6214-6216)tcC>tcT	p.S2072S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2072			S -> C (in BC).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.S2072F(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGAAAGTTCCTTACACAAAG	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				100			32		0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615210	615210	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:615210T>C	uc002chk.3	+	2	1898	c.1619T>C	c.(1618-1620)aTt>aCt	p.I540T	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	540										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GACCCTGTCATTCCTGGCAGT	0.682000														18			9		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	939188	939188	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:939188C>T	uc021qss.1	+	3	1816	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	WNK1_uc001qio.4_Silent_p.A391A|WNK1_uc021qst.1_Silent_p.A391A|WNK1_uc001qip.4_Silent_p.A391A	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	391	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTTCATGGCCCCTGAGATGT	0.458000														117			31		0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99699547	99699547	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:99699547C>T	uc003utb.4	+	1	311	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R35W|AP4M1_uc010lgl.1_Missense_Mutation_p.R35W|AP4M1_uc003utd.3_Missense_Mutation_p.R35W|AP4M1_uc011kjh.2_5'UTR|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'Flank	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	35					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTTCTACCGGAAGCTGAC	0.706000														46			7		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:128688339C>T	uc003ifl.3	+	3	743	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	199					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358000														131			8		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270703	37270703	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:37270703C>T	uc001caz.2	-	14	2585	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E	GRIK3_uc001cba.1_Missense_Mutation_p.G817E	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	817					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTCTGGATCCCCAGGGCACT	0.597000														97			12		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674324	47674324	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47674324G>A	uc002zir.1	-	18	4154	c.4118C>T	c.(4117-4119)tCc>tTc	p.S1373F	MCM3AP_uc002zip.1_Missense_Mutation_p.S114F|MCM3AP_uc002ziq.1_Missense_Mutation_p.S300F	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1373					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACTCTCTGGGGACTGCTCCTC	0.617000														74			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179515978	179515978	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179515978G>A	uc021vsy.1	-	161	32540	c.32315C>T	c.(32314-32316)cCa>cTa	p.P10772L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11699	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10772Q(1)|p.P10772S(1)		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)			ACCTTTTGCTGGTGGGACTTC	0.368000														59			20		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472367	23472367	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:23472367G>A	uc002wth.1	+	1	420	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	21						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGTGGCCAGGAAAGACCCAA	0.557000														134			27		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120362782	120362782	+	Silent	SNP	A	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:120362782A>G	uc002tmb.3	+	11	1304	c.192A>G	c.(190-192)tcA>tcG	p.S64S	PCDP1_uc010yyq.2_Silent_p.S194S	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	350						cilium	calmodulin binding					Colorectal(110;0.196)					CTGAAATTTCAAAAACGAGAC	0.383000														65			18		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135945895	135945896	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:135945895_135945896CC>TT	uc010naa.1	+	9	1359_1360	c.1343_1344CC>TT	c.(1342-1344)ccc>cTT	p.P448L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	445					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTCGGATGCCCGTCTACCCCA	0.619000														93			43		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11645520	11645520	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11645520G>A	uc002gne.3	+	29	6069	c.6001G>A	c.(6001-6003)Gaa>Aaa	p.E2001K	DNAH9_uc010coo.3_Missense_Mutation_p.E1295K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2001	AAA 1 (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)		TCCAGACTTTGAATTGATCTG	0.438000														70			24		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375498	42375498	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:42375498C>T	uc001zox.3	-	7	665	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	190					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CATAGGACCCCTTCAGCACCA	0.602000														56			34		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617424	41617424	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:41617424G>A	uc003oqq.4	+	3	534	c.327G>A	c.(325-327)gaG>gaA	p.E109E	MDFI_uc010jxn.3_Silent_p.E109E	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	109					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACCCCTCAGAGCTGGGCGGCA	0.637000														213			47		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620164	112620164	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:112620164G>A	uc002thi.3	-	9	1311	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCAGGAGAATGAGCACG	0.418000														40			7		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32410669	32410669	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:32410669C>T	uc001mtn.2	-	9	1679	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	WT1_uc001mtl.2_Missense_Mutation_p.D282N|WT1_uc001mtm.2_Missense_Mutation_p.D268N|WT1_uc001mto.2_Missense_Mutation_p.D494N|WT1_uc001mtq.2_Missense_Mutation_p.D477N|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	429					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACTAATTCATCTGACCGGGCA	0.522000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					75			33		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650650	37650650	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:37650650T>C	uc002yvg.3	+	29	6045	c.5966T>C	c.(5965-5967)gTt>gCt	p.V1989A	DOPEY2_uc011aeb.2_Missense_Mutation_p.V1938A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1989					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTCCTGTGTTCAGTAAGAT	0.473000														75			13		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123586	40123586	+	Silent	SNP	T	A	A	rs114198420	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:40123586T>A	uc003guy.4	+	8	4193	c.3855T>A	c.(3853-3855)tcT>tcA	p.S1285S	N4BP2_uc010ifq.3_Silent_p.S1205S|N4BP2_uc010ifr.3_Silent_p.S1205S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1285						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CACATTTCTCTGATATTTTTA	0.284000														76			7		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701677	103701677	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:103701677C>T	uc001vpy.4	-	4	1478	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	294					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGGAAAATGCTGTAGATGAG	0.458000														102			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107099241	107099241	+	RNA	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:107099241G>A	uc021ser.1	-	109		c.4833C>T								Parts of antibodies, mostly variable regions.																		GCCCTTCACAGAGTCTGTGTA	0.502000														71			35		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927275	53927275	+	Missense_Mutation	SNP	G	A	A	rs150761078		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:53927275G>A	uc001cvq.1	+	1	762	c.707G>A	c.(706-708)gGc>gAc	p.G236D		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	236	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CTGCAGCAGGGCTTCCGGCAT	0.682000														77			29		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979706	240979706	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:240979706C>T	uc001hyt.2	-	3	244	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	RGS7_uc010pyh.2_Missense_Mutation_p.G206S|RGS7_uc010pyj.1_Missense_Mutation_p.G148S|RGS7_uc001hyu.2_Missense_Mutation_p.G232S|RGS7_uc009xgn.1_Missense_Mutation_p.G179S|RGS7_uc001hyv.2_Missense_Mutation_p.G232S|RGS7_uc001hyw.2_Missense_Mutation_p.G232S	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	232	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTAAACCATAGACAGAC	0.338000														107			25		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806494	54806494	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:54806494G>A	uc003pck.3	+	4	2841	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	909										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTACCCCTGAAAGAAGACC	0.458000														100			23		0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037074	33037074	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:33037074G>T	uc003ocs.2	-	2	457	c.350C>A	c.(349-351)cCc>cAc	p.P117H	HLA-DPA1_uc021ywg.1_Missense_Mutation_p.P117H|HLA-DPA1_uc021ywh.1_Missense_Mutation_p.P117H|HLA-DPA1_uc010juk.3_Missense_Mutation_p.P117H	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	117	Alpha-2.				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|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CACCTCAGGGGGATCTGGAAG	0.572000														79			8		0.000157383	0.000159933	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857436	9857436	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:9857436C>T	uc010uym.2	-	13	4275	c.3965G>A	c.(3964-3966)gGa>gAa	p.G1322E	GRIN2A_uc002czo.4_Missense_Mutation_p.G1322E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1322					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAAAAATTTCCCTCCAGAAG	0.527000														109			22		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718014	101718014	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:101718014T>C	uc021sxt.1	-	2	2464	c.1988A>G	c.(1987-1989)tAt>tGt	p.Y663C	CHSY1_uc010usd.2_Missense_Mutation_p.Y391C	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	663					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTTGGGTCATACTGGCTGAA	0.433000														159			14		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170797381	170797381	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:170797381T>C	uc003fhh.2	-	27	3719	c.3374A>G	c.(3373-3375)aAt>aGt	p.N1125S	TNIK_uc003fhi.2_Missense_Mutation_p.N1070S|TNIK_uc003fhj.2_Missense_Mutation_p.N1096S|TNIK_uc003fhk.2_Missense_Mutation_p.N1117S|TNIK_uc003fhl.2_Missense_Mutation_p.N1041S|TNIK_uc003fhm.2_Missense_Mutation_p.N1062S|TNIK_uc003fhn.2_Missense_Mutation_p.N1088S|TNIK_uc003fho.2_Missense_Mutation_p.N1033S|TNIK_uc003fhg.2_Missense_Mutation_p.N303S|TNIK_uc003fhp.3_Missense_Mutation_p.N57S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1125	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTGGGTCATTATGTAGTAT	0.343000														40			5		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780587	96780587	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:96780587G>A	uc021vlh.1	-	0	1302	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	437					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGATCCTCCGGAAGGCACGGC	0.637000														20			6		0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52239921	52239922	+	Missense_Mutation	DNP	CC	TT	TT	rs151137611		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:52239921_52239922CC>TT	uc011bec.2	+	6	1238_1239	c.918_919CC>TT	c.(916-921)ttccat>ttTTat	p.H307Y	ALAS1_uc003dcy.2_Missense_Mutation_p.H290Y|ALAS1_uc003dcz.2_Missense_Mutation_p.H290Y	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	290					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L307F(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTAGTAAATTCCATGTGGACTT	0.446000														53			13		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74143888	74143888	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74143888T>G	uc002sjw.3	+	7	1105	c.983T>G	c.(982-984)aTc>aGc	p.I328S	ACTG2_uc010yrn.2_Missense_Mutation_p.I285S|ACTG2_uc010fey.3_Missense_Mutation_p.I328S	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	328					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ACCATGAAGATCAAGGTGGGT	0.537000														57			13		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40747058	40747058	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:40747058C>T	uc002xkg.3	-	20	3151	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	PTPRT_uc010ggj.3_Silent_p.L1008L|PTPRT_uc010ggi.3_Silent_p.L192L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	989	Tyrosine-protein phosphatase 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)				CCACTTCCACCAGGTTTGTGA	0.537000														103			18		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188225437	188225437	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:188225437C>A	uc010frt.3	-	8	1052	c.669G>T	c.(667-669)atG>atT	p.M223I	CALCRL_uc002upv.4_Missense_Mutation_p.M223I	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	223						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AATTACAGCCCATCAGGTAAA	0.373000														68			5		1.23904e-05	1.26792e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121322263	121322263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:121322263C>T	uc003yox.3	+	36	4682	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.R438*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1473	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L1472L(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCAGGACTCCGAGGACCAAA	0.423000														74			16		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913365	136913365	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:136913365G>A	uc003qhc.3	-	22	3532	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	MAP3K5_uc011edj.2_Silent_p.I304I|MAP3K5_uc011edk.1_Silent_p.I903I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1057					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438000														186			19		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072515	108072515	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:108072515G>A	uc003dwz.3	+	3	720	c.306G>A	c.(304-306)ggG>ggA	p.G102G	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Silent_p.G102G|HHLA2_uc003dwy.4_Silent_p.G102G	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTCAAAATGGGAATGCGTCGC	0.403000														46			13		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467347	133467347	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:133467347G>A	uc003epu.2	+	6	1863	c.135G>A	c.(133-135)atG>atA	p.M45I	TF_uc011bls.1_Missense_Mutation_p.M45I|TF_uc011blt.2_Intron|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.M45I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	45	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.H44H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GCGACCATATGAAAAGCGTCA	0.537000														45			10		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:31822993G>T	uc001zfq.3	-	3	662	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_uc001zfr.3_Missense_Mutation_p.S190Y	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	190	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527000														78			14		3.45872e-05	3.53111e-05	1	1	0
RHOF	54509	broad.mit.edu	37	12	122217526	122217526	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:122217526C>T	uc001ubb.3	-	4	569	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Non-coding_Transcript	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	172					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCGGAACATTCCAGGTAGAGA	0.632000														94			10		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66124122	66124122	+	RNA	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:66124122C>T	uc002jgq.3	+	5		c.3245C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TATTGTTTTTCAAAACAGGAG	0.343000														12			5		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19757947	19757947	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:19757947G>A	uc002nnh.4	-	21	3124	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S	ATP13A1_uc002nne.3_Silent_p.S172S|ATP13A1_uc002nnf.4_Silent_p.S400S|ATP13A1_uc002nng.3_Silent_p.S914S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1032					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTTGGAACGGGAGATGAAGA	0.612000														34			8		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57106806	57106806	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:57106806G>A	uc002lib.3	-	8	990	c.920C>T	c.(919-921)cCa>cTa	p.P307L	CCBE1_uc010dpq.3_Missense_Mutation_p.P36L|CCBE1_uc002lia.3_Missense_Mutation_p.P160L	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	307	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGCCCCTGGTGGACCCTGTAA	0.418000														130			35		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160510242	160510242	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:160510242C>T	uc003qta.3	+	42	6572	c.6424C>T	c.(6424-6426)Cct>Tct	p.P2142S		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2142					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CATCACCAACCCTATAAATGG	0.463000														52			7		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205497011	205497011	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:205497011C>T	uc001hcr.3	+	8	1171	c.909C>T	c.(907-909)atC>atT	p.I303I	CDK18_uc001hcp.3_Silent_p.I273I|CDK18_uc001hcq.3_Silent_p.I273I|CDK18_uc010prj.2_Silent_p.I184I|CDK18_uc001hcs.3_Silent_p.I184I|CDK18_uc009xbm.1_Silent_p.I198I	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	271	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACCTGCTCATCAACGAGAGGG	0.647000														112			36		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429873	42429873	+	Silent	SNP	C	T	T	rs63751698		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:42429873C>T	uc002igp.1	+	11	1797	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	526					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGGACACTTCTGCCATGATA	0.632000														105			12		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926570	130926570	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:130926570C>T	uc001uil.2	-	7	1492	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	RIMBP2_uc001uim.3_Missense_Mutation_p.E334K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	426	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AACTCCTCCTCGTTGAGGAAG	0.577000														75			11		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459945	186459946	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:186459945_186459946GG>AA	uc011bsa.2	+	9	1994_1995	c.1760_1761GG>AA	c.(1759-1761)tgg>tAA	p.W587*	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	587					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GATGACGATTGGATCCCTGATA	0.460000														157			17		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650303	70650303	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:70650303G>A	uc003xyl.3	-	4	2102	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.I465I|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	465						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGAGGCTGGGATACCAAACT	0.438000														90			22		0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5145507	5145507	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:5145507T>G	uc002cyo.2	-	1	154	c.105A>C	c.(103-105)gaA>gaC	p.E35D	FAM86A_uc002cyp.2_Missense_Mutation_p.E35D	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	35										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TTAACTTTGCTTCTAAGCTCT	0.478000														85			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665349	179665349	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179665349C>A	uc021vsy.1	-	3	581	c.356G>T	c.(355-357)aGc>aTc	p.S119I	TTN_uc021vsz.1_Missense_Mutation_p.S119I|TTN_uc021vta.1_Missense_Mutation_p.S119I|TTN_uc021vtb.1_Missense_Mutation_p.S119I|TTN_uc002unb.2_Missense_Mutation_p.S119I|TTN_uc002und.3_Missense_Mutation_p.S119I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	119	Ig-like 2.						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)			TCTCACTTGGCTTCCTTGTCT	0.522000														135			28		7.41945e-09	7.66386e-09	1	1	0
XYLB	9942	broad.mit.edu	37	3	38407206	38407206	+	Silent	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:38407206C>A	uc003cic.2	+	5	595	c.486C>A	c.(484-486)ctC>ctA	p.L162L	XYLB_uc011ayp.1_Silent_p.L25L|XYLB_uc003cid.1_Silent_p.L84L	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	162					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCAGCTGCCTCACGGGGTCCC	0.667000														40			4		0.00909568	0.00920047	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102965541	102965541	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:102965541G>A	uc002tbu.1	+	9	1391	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	374					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTTTCAGATGGAAAGCTCTA	0.408000														101			21		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99921877	99921877	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:99921877C>T	uc004egb.3	+	7	1388	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	303	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGACACCCTCCCGGGTCTGT	0.607000														24			12		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72536920	72536920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:72536920G>A	uc010qjm.1	-	6	1072	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	C10orf27_uc001jrj.1_Nonsense_Mutation_p.Q227*|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Nonsense_Mutation_p.Q226*|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Nonsense_Mutation_p.Q247*	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	227					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGCAGCTCCTGATCCTGAAGG	0.617000														25			9		0	0	1	0	0
SRP14	6727	broad.mit.edu	37	15	40328689	40328689	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:40328689G>A	uc001zkq.2	-	4	328	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	86					SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		GCTCTAAGGAGGTTTGAATAA	0.473000														167			36		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30557594	30557594	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:30557594C>T	uc003nql.3	+	21	2171	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	ABCF1_uc003nqm.3_Silent_p.F654F	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	692	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAATTGGCTTCTTCAACCAGC	0.547000														128			26		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814559	137814559	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:137814559G>A	uc002tva.1	+	1	616	c.616G>A	c.(616-618)Gag>Aag	p.E206K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E96K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.A205T(1)|p.A205V(1)		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)		TCTTGGGGAAGAGGAATATAC	0.453000														182			39		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864962	47864963	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:47864962_47864963TC>GT	uc002xui.3	-	13	4845_4846	c.4598_4599GA>AC	c.(4597-4599)cga>cAC	p.R1533H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1533							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCATGGGGGTCGGTTGCAGGG	0.574000														229			41		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846673	7846673	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7846673G>A	uc010rbg.2	-	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAACATGGGAATCACCACG	0.438000														72			14		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072331	34072332	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:34072331_34072332CC>TT	uc002hjv.2	-	5	2212_2213	c.2184_2185GG>AA	c.(2182-2187)tcggct>tcAAct	p.A729T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	729					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)		ACAGTAGAAGCCGAGCAGTCCT	0.619000														169			21		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261540	16261540	+	Silent	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:16261540G>T	uc001axk.1	+	10	9009	c.8805G>T	c.(8803-8805)ggG>ggT	p.G2935G	SPEN_uc010obp.1_Silent_p.G2894G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2935					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCACCCAGGGGATCAACACAC	0.577000														59			18		9.16793e-09	9.4477e-09	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70913277	70913277	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:70913277G>A	uc002ezr.3	-	61	10628	c.10477C>T	c.(10477-10479)Ctc>Ttc	p.L3493F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3494										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)				CTCTTAAAGAGGAGCAAGGGG	0.537000														39			4		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769958	37769958	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:37769958C>T	uc003asq.4	-	2	2403	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	ELFN2_uc021wph.1_Silent_p.K539K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	539						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGTCCACCTCCTTGGCAATGG	0.642000														117			14		0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16286042	16286042	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:16286042C>T	uc003nbs.3	+	6	787	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	225					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CTGTACGTGTCCAGGGGATGT	0.602000											OREG0017214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			5		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762811	24762811	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:24762811C>T	uc001iru.4	+	5	1904	c.1501C>T	c.(1501-1503)Cca>Tca	p.P501S	KIAA1217_uc001irs.3_Missense_Mutation_p.P421S|KIAA1217_uc001irt.4_Missense_Mutation_p.P501S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P501S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P501S|KIAA1217_uc001irv.1_Missense_Mutation_p.P351S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P219S|KIAA1217_uc001irz.3_Missense_Mutation_p.P219S|KIAA1217_uc001irx.3_Missense_Mutation_p.P219S|KIAA1217_uc001iry.3_Missense_Mutation_p.P219S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	501					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						CACCATGCAGCCAGACCGGGC	0.572000														119			14		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5565995	5565995	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5565995G>A	uc010qzh.2	-	0	759	c.759C>T	c.(757-759)gtC>gtT	p.V253V	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGACATGAGAAC	0.502000														64			18		0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9751129	9751129	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:9751129G>A	uc010sgt.2	-	3	442	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily B, member 1 (KLRB1), mRNA.	127	C-type lectin.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						CAGCAGGCTGGATTCTTTGGT	0.353000														116			35		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868924	108868924	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:108868924G>A	uc010ywo.2	+	1	276	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	92						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCCTTGAACTGAAATTTCCCC	0.393000														58			11		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86388066	86388066	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:86388066G>T	uc003ydk.2	+	4	664	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	162					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AGTTGTTGATGTGCTGGATTC	0.373000														35			8		0.0381472	0.0384097	1	1	0
CRB1	23418	broad.mit.edu	37	1	197396828	197396828	+	Silent	SNP	A	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:197396828A>T	uc001gtz.3	+	6	2582	c.2373A>T	c.(2371-2373)ggA>ggT	p.G791G	CRB1_uc010poz.2_Silent_p.G722G|CRB1_uc009wza.3_Silent_p.G679G|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.G272G|CRB1_uc001gub.1_Silent_p.G440G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	791	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTAATGATGGAAATGTCCACT	0.373000														47			13		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067669	190067669	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:190067669G>A	uc001gse.1	-	7	2012	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	FAM5C_uc010pot.1_Missense_Mutation_p.P492S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	594						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCCAGTCTGGAAAGCTGTTT	0.463000														240			58		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114633	145114633	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:145114633G>A	uc003zar.3	-	2	314	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	78							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GTGCCCATGCGGATGCTGGCG	0.682000														44			12		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122786	29122786	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:29122786G>A	uc002kwu.4	+	13	2493	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	769					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCACTGAACGAAGAATTCTT	0.478000														65			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69129915	69129915	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:69129915C>T	uc003xxv.1	+	37	4696	c.4669C>T	c.(4669-4671)Cgt>Tgt	p.R1557C		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1557					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1557C(2)		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						ACTGCCACCTCGTTACATCAT	0.552000														38			10		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476273	74476273	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:74476273C>T	uc002axj.3	-	13	1701	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	STRA6_uc002axi.3_Silent_p.R217R|STRA6_uc010ulh.2_Silent_p.R446R|STRA6_uc002axk.3_Silent_p.R408R|STRA6_uc002axl.3_Silent_p.R340R|STRA6_uc010bji.3_Silent_p.R408R|STRA6_uc021sqg.1_Silent_p.R423R|STRA6_uc002axm.3_Silent_p.R408R|STRA6_uc002axn.3_Silent_p.R399R|STRA6_uc010uli.2_Silent_p.R445R|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	408					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GATGGGGACTCCGATGCAAGG	0.612000														73			39		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185033885	185033885	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:185033885C>T	uc003iwc.3	-	5	1075	c.933G>A	c.(931-933)aaG>aaA	p.K311K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	311					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ACTTTCCTTTCTTGTAATAGA	0.373000														97			28		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280150	66280150	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:66280150G>A	uc003hcy.3	-	6	1732	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	EPHA5_uc003hcx.3_Silent_p.T444T|EPHA5_uc003hcz.3_Silent_p.T513T|EPHA5_uc011cah.2_Silent_p.T513T|EPHA5_uc011cai.2_Silent_p.T513T|EPHA5_uc003hda.2_Silent_p.T513T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	513	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCGTGTAGCTGGTCTCTTGGT	0.373000										TSP Lung(17;0.13)				79			23		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526326	84526326	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:84526326C>T	uc004eeq.3	+	9	2802	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	ZNF711_uc004eep.3_Missense_Mutation_p.P593L|ZNF711_uc004eeo.3_Missense_Mutation_p.P593L|ZNF711_uc011mqy.1_Missense_Mutation_p.P192L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	593					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CACCAGTGTCCTCATTGTGAC	0.428000														26			9		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992576	176992576	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:176992576G>A	uc001glc.3	-	6	1614	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	ASTN1_uc001glb.1_Silent_p.L468L|ASTN1_uc001gld.1_Silent_p.L468L|ASTN1_uc009wwx.1_Silent_p.L468L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	468	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.L467L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGGGTCCAGGAGCCGCCGG	0.612000														23			10		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453288	64453288	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:64453288G>A	uc021qkw.1	-	5	1444	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	NRXN2_uc021qkx.1_Silent_p.L304L|NRXN2_uc001oas.3_Silent_p.L304L|NRXN2_uc001oaq.3_Silent_p.L2L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	328	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTGTATGCAGCATCAGGCCG	0.577000														147			16		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55529118	55529118	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:55529118C>T	uc001cyf.2	+	11	2302	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	647					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTCCTGGGGGCCTACGCCGTA	0.662000														31			6		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26661294	26661294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:26661294C>T	uc003gsf.4	+	7	826	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	TBC1D19_uc010iew.3_Nonsense_Mutation_p.Q186*|TBC1D19_uc011bxu.2_Nonsense_Mutation_p.Q121*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	186						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGGTTTAATTCAAGTTCCACT	0.279000														56			6		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619354	144619354	+	Silent	SNP	C	T	T	rs4067644	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:144619354C>T	uc009wig.1	+	5	689	c.495C>T	c.(493-495)gaC>gaT	p.D165D	NBPF10_uc010oxo.1_Silent_p.D167D|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.D98D|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.	167										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)		TAGAAAATGACGAAGATGAGG	0.428000														263			29		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002411	30002411	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:30002411G>A	uc002dvc.2	+	18	3489	c.2672G>A	c.(2671-2673)cGa>cAa	p.R891Q	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	772	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGCTCCGAGCGAATCCGCAGT	0.662000														66			11		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640188	94640188	+	Missense_Mutation	SNP	C	T	T	rs140638899	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:94640188C>T	uc001dqj.4	-	22	3392	c.3023G>A	c.(3022-3024)aGg>aAg	p.R1008K	ARHGAP29_uc009wdq.1_Non-coding_Transcript	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1008					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAGTATGCCTCTCCACATT	0.418000														123			36		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55565330	55565330	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:55565330G>A	uc003tqs.3	-	2	350	c.167C>T	c.(166-168)tCc>tTc	p.S56F	VOPP1_uc003tqq.3_Missense_Mutation_p.S47F|VOPP1_uc010kzh.3_Missense_Mutation_p.S53F|VOPP1_uc010kzi.3_Missense_Mutation_p.S39F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CCTCTGTATGGAGAGGGCCCG	0.617000														77			5		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30077263	30077263	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:30077263C>G	uc001usl.4	+	13	4118	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V	MTUS2_uc001usm.4_Missense_Mutation_p.L323V|MTUS2_uc010aau.3_Missense_Mutation_p.L233V|MTUS2_uc010tdq.2_Missense_Mutation_p.L106V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1344						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCGATTAAACTCTCGCCCAC	0.577000														57			14		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65124532	65124532	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:65124532C>T	uc001dbo.1	+	12	1879	c.1774C>T	c.(1774-1776)Cac>Tac	p.H592Y	CACHD1_uc001dbp.1_Missense_Mutation_p.H347Y|CACHD1_uc001dbq.1_Missense_Mutation_p.H347Y	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	643					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTTGCCTCCACTTCAAACA	0.488000														8			4		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59805664	59805664	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:59805664G>A	uc009wac.3	+	2	448	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.R79Q|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	79					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AACCAAATTCGAGGACTTGGG	0.363000														35			6		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894422	78894422	+	Missense_Mutation	SNP	C	T	T	rs74315118		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:78894422C>T	uc002bec.3	-	4	1063	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CHRNA3_uc002beb.3_Missense_Mutation_p.D188N|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	188					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGACCAGATCGATTTTCGCC	0.488000														146			39		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190130016	190130016	+	Silent	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:190130016T>C	uc001gse.1	-	6	1198	c.966A>G	c.(964-966)gaA>gaG	p.E322E	FAM5C_uc010pot.1_Silent_p.E220E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	322						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATAACTTGAATTCATCTGAAA	0.274000														69			9		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155571004	155571004	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:155571004G>A	uc003qqb.3	+	22	5125	c.3852G>A	c.(3850-3852)gaG>gaA	p.E1284E	TIAM2_uc003qqe.3_Silent_p.E1284E|TIAM2_uc010kjj.3_Silent_p.E817E|TIAM2_uc003qqf.3_Silent_p.E660E|TIAM2_uc011efl.1_Silent_p.E620E|TIAM2_uc003qqg.3_Silent_p.E596E|TIAM2_uc003qqh.3_Silent_p.E209E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1284	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGCAATGGAGAAAGTAGCGA	0.393000														32			11		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844317	131844317	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:131844317G>A	uc003vra.4	-	24	4804	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1525						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGACCTGAGTGATGGTGTCAC	0.547000														271			126		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732306	8732306	+	Splice_Site	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:8732306C>T	uc002glq.1	-	11	1130	c.890_splice	c.e11-1	p.W297_splice	PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	297					platelet activation	cytosol											CCAGTTCCTTCCCTGGGGTGG	0.607000														15			6		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322486	167322486	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:167322486G>A	uc002udu.2	-	6	806	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	226					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCCTACAAGGGATTTCAGA	0.403000														19			6		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69371372	69371372	+	Splice_Site	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:69371372C>T	uc001xkl.3	-	7	986	c.676_splice	c.e7+1	p.D226_splice	ACTN1_uc010ttb.2_Splice_Site_p.D161_splice|ACTN1_uc001xkm.3_Splice_Site_p.D226_splice|ACTN1_uc001xkn.3_Splice_Site_p.D226_splice|ACTN1_uc001xko.1_Splice_Site_p.D161_splice|ACTN1_uc010ttd.1_Splice_Site_p.D205_splice	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	226	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGCCTTTCACCTTCGGCATCC	0.572000														63			23		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107698335	107698335	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:107698335C>T	uc010ljo.1	-	23	3405	c.3321G>A	c.(3319-3321)ggG>ggA	p.G1107G	LAMB4_uc003vey.2_Silent_p.G1107G|LAMB4_uc010ljp.1_Silent_p.G76G	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1107	Laminin EGF-like 12.				cell adhesion	basement membrane		p.G1106S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCAACGTTTCCCGCCGTAAC	0.428000														20			9		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736427	158736427	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:158736427C>T	uc010piq.2	-	0	46	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGGAAGCCCAAGATGATG	0.473000														54			19		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2774072	2774072	+	Missense_Mutation	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:2774072C>A	uc009zdu.1	+	36	4771	c.4458C>A	c.(4456-4458)agC>agA	p.S1486R	CACNA1C_uc001qkc.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qke.2_Missense_Mutation_p.S1427R|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1427R|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1460R|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1425R|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1427R|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1486R|CACNA1C_uc001qkj.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkk.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkm.2_Missense_Mutation_p.S1427R|CACNA1C_uc001qko.2_Missense_Mutation_p.S1458R|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1466R|CACNA1C_uc001qku.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1455R|CACNA1C_uc001qks.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1438R|CACNA1C_uc009zdv.1_Missense_Mutation_p.S1435R|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1438R|CACNA1C_uc001qki.1_Missense_Mutation_p.S1174R|CACNA1C_uc010sea.1_Missense_Mutation_p.S129R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1486	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCGAGCCCAGCAACAGCACGG	0.602000														30			5		0.014758	0.0148937	1	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369151	86369151	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:86369151G>A	uc001vll.1	-	1	1952	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	SLITRK6_uc021rla.1_Missense_Mutation_p.P498L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	498						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTACTTACAGGTAGATGGGT	0.403000														89			21		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125140277	125140277	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:125140277G>A	uc004bmg.1	+	2	329	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PTGS1_uc011lys.1_Missense_Mutation_p.G40D|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.G65D|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	65	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GGCTATTCCGGCCCCAACTGC	0.602000														93			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:13920608C>T	uc003jfd.2	-	5	821	c.779G>A	c.(778-780)tGg>tAg	p.W260*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	260	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome					138			24		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62631468	62631468	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:62631468G>A	uc003dll.2	-	5	1614	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	CADPS_uc003dlm.2_Silent_p.I418I|CADPS_uc003dln.2_Silent_p.I418I|CADPS_uc021wzv.1_Silent_p.I418I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	418	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATATACGATGCGATTTG	0.463000														108			80		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37778457	37778457	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:37778457C>T	uc003chd.3	+	19	2270	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	739					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCTCAGCTTCATTGTTACTG	0.438000														32			6		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47863861	47863861	+	Splice_Site	SNP	G	C	C	rs138787524		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47863861G>C	uc002zji.4	+	45	9946	c.9839_splice	c.e45+1	p.R3280_splice	PCNT_uc002zjj.3_Splice_Site_p.R3083_splice	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3280					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGGGGGAAGGTCAGTGTGA	0.627000														36			8		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55844364	55844364	+	Missense_Mutation	SNP	C	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:55844364C>G	uc002rzc.3	-	0	750	c.58G>C	c.(58-60)Gac>Cac	p.D20H	SMEK2_uc002rzb.3_Missense_Mutation_p.D20H|SMEK2_uc002rzd.3_Missense_Mutation_p.D20H|SMEK2_uc002rze.3_Non-coding_Transcript	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	20	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTCGGTCGTCCCATTGCCGG	0.627000														55			13		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761257	74761257	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74761257C>T	uc002smp.1	-	11	2118	c.2046G>A	c.(2044-2046)acG>acA	p.T682T	LOXL3_uc002smo.1_Silent_p.T321T|LOXL3_uc010ffm.1_Silent_p.T626T|LOXL3_uc002smq.1_Silent_p.T537T|LOXL3_uc010ffn.1_Silent_p.T537T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	682	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GCTTCACATCCGTGATGTCAA	0.522000														67			21		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113698247	113698247	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:113698247C>T	uc001tux.3	+	3	577	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TPCN1_uc001tuw.3_Missense_Mutation_p.P63S|TPCN1_uc010syt.1_5'UTR	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	63						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCCTCCAGCCCCGCACACAA	0.587000														45			4		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603073	26603073	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:26603073G>A	uc001bls.1	+	12	2081	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	CEP85_uc001blr.3_Silent_p.Q650Q|CEP85_uc010ofa.1_Silent_p.Q599Q|CEP85_uc001blt.1_Silent_p.Q82Q	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	650						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TGACACTCCAGGAACACCTGC	0.552000														61			13		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257781	158257781	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:158257781G>A	uc003ipm.4	+	10	2185	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	GRIA2_uc011cit.2_Missense_Mutation_p.E529K|GRIA2_uc003ipl.4_Missense_Mutation_p.E576K|GRIA2_uc003ipk.4_Missense_Mutation_p.E529K|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCACACTGAGGAGTTTGAAGA	0.423000														120			31		0	0	1	0	0
CLEC18A	348174	broad.mit.edu	37	16	69988426	69988426	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:69988426C>T	uc010vlo.2	+	3	526	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	CLEC18A_uc002exy.3_Missense_Mutation_p.H136Y|CLEC18A_uc002exz.3_Missense_Mutation_p.H136Y|CLEC18A_uc002eya.3_Missense_Mutation_p.H136Y|CLEC18A_uc010vlp.2_Missense_Mutation_p.H136Y	NM_001136214	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 2, mRNA.	136	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GCGGTACAGCCACGCGGCAGG	0.617000														20			6		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3976584	3976584	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:3976584G>A	uc002lze.3	-	14	2628	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	849						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGGGCAGGGATGCCTTCT	0.662000														12			5		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266963	107266963	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:107266963C>T	uc011lvm.2	+	0	420	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGGAGAACCTGTGTGCAGA	0.532000														87			31		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567295	5567295	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:5567295G>T	uc001iie.1	+	0	372	c.247G>T	c.(247-249)Gag>Tag	p.E83*	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	83	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						CACGGACAACGAGGAGGAGAT	0.642000														52			6		3.59834e-05	3.66513e-05	1	1	0
FMN1	342184	broad.mit.edu	37	15	33358849	33358849	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:33358849G>A	uc001zhf.4	-	0	1237	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	FMN1_uc001zhg.2_Missense_Mutation_p.P413S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	173	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCCTTTCTGGGGGGCCGGATG	0.567000														86			18		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938316	21938316	+	RNA	SNP	A	C	C	rs111913251	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:21938316A>C	uc010tzj.1	-	0		c.2424T>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		aaacctgacaaaaacaagaaa	0.413000														9			4		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202766	2202766	+	Silent	SNP	G	A	A	rs139116937	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:2202766G>A	uc002fub.1	-	1	1336	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SMG6_uc002fud.2_Silent_p.S396S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	427	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAAAGGCGCGGACTCTGGAG	0.547000														93			33		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842134	5842134	+	Missense_Mutation	SNP	C	T	T	rs140734548	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5842134C>T	uc010qzp.2	+	0	569	c.569C>T	c.(568-570)tCc>tTc	p.S190F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAAGGTATCCTGTGGCAAT	0.473000														227			36		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950128	198950128	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:198950128G>A	uc010fsp.3	+	1	2285	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	PLCL1_uc002uuv.4_Silent_p.E550E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	629	PI-PLC Y-box.				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)	AGTACCCAGAGGATTTTGTTA	0.368000														66			20		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950066	7950066	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7950066G>A	uc010rbh.2	-	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTAGGGAGACGATGACTATAA	0.468000														143			31		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24727368	24727368	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:24727368C>T	uc001iru.4	+	4	1209	c.806C>T	c.(805-807)gCg>gTg	p.A269V	KIAA1217_uc001irs.3_Missense_Mutation_p.A189V|KIAA1217_uc001irt.4_Missense_Mutation_p.A269V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A269V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A269V|KIAA1217_uc001irv.1_Missense_Mutation_p.A119V|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	269					embryonic skeletal system development	cytoplasm		p.A269V(2)		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						CCTGCACATGCGTTTAATCAC	0.413000														102			20		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75323588	75323588	+	Silent	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:75323588T>C	uc021rwo.1	-	3	1524	c.1524A>G	c.(1522-1524)acA>acG	p.T508T	PROX2_uc001xqp.2_Silent_p.T506T|PROX2_uc001xqq.2_Silent_p.T281T	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	508	Prospero-like.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TTTTGGGATTTGTGACACCAT	0.418000														107			41		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002148	98002148	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:98002148G>A	uc003dsj.1	+	0	417	c.417G>A	c.(415-417)gtG>gtA	p.V139V		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	139					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						TATATCCAGTGATTATGAACA	0.373000														104			14		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022653	73022653	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:73022653C>T	uc001otu.3	+	0	2991	c.2970C>T	c.(2968-2970)ttC>ttT	p.F990F		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	990	Pro-rich.				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCATAGGCTTCCCTACCCGAG	0.607000														74			16		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779082	52779082	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:52779082C>T	uc001sah.1	-	0	336	c.288G>A	c.(286-288)ggG>ggA	p.G96G		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	96	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCCCTAGGCCCCAGACCAA	0.597000														124			34		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430858	78430858	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:78430858G>A	uc001dii.3	-	7	620	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.F198F	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	177					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGCCATGATGGAAGCCAGGAG	0.423000			"""F, N"""		oligodendroglioma									136			36		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574552	10574552	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:10574552C>T	uc002moj.2	+	13	1935	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	PDE4A_uc021uow.1_Silent_p.I587I|PDE4A_uc002mok.2_Silent_p.I583I|PDE4A_uc002mol.2_Silent_p.I548I|PDE4A_uc002mom.2_Silent_p.I370I|PDE4A_uc002moo.2_Silent_p.I275I	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	609	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			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)	CAGACCGCATCATGGCCGAGT	0.627000														53			31		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968748	119968748	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:119968748G>A	uc001txe.3	+	12	1896	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	477										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATCCTGGTGAAACTGCAGA	0.498000														72			11		0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157414029	157414029	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:157414029C>T	uc002tzf.4	+	8	1460	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	GPD2_uc010zch.2_Missense_Mutation_p.P140L|GPD2_uc002tzd.4_Missense_Mutation_p.P367L|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CATCCAATTCCTTCAGAAGAA	0.413000														55			8		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412641	139412641	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:139412641G>A	uc004chz.3	-	6	1203	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	401	EGF-like 10.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTACCCCGAGGGGCAGGTGC	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				9			4		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904563	73904563	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:73904563C>T	uc011dyh.2	+	14	2629	c.2282C>T	c.(2281-2283)cCa>cTa	p.P761L	KCNQ5_uc011dyi.2_Missense_Mutation_p.P752L|KCNQ5_uc010kat.3_Missense_Mutation_p.P733L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P742L|KCNQ5_uc011dyj.2_Missense_Mutation_p.P632L|KCNQ5_uc011dyk.2_Missense_Mutation_p.P492L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	742					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCACCCAAGCCAGCAGCCCCA	0.532000														79			7		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394998	115394998	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:115394998G>A	uc003ebr.2	+	2	951	c.277G>A	c.(277-279)Gat>Aat	p.D93N	GAP43_uc003ebq.2_Missense_Mutation_p.D57N	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	57					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.D57H(1)|p.D93H(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAGAAGAAGGATGATGTCCA	0.488000														62			23		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:78848402C>T	uc004akc.2	+	21	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000														73			16		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148632325	148632325	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:148632325C>T	uc003lpy.2	+	22	2114	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	ABLIM3_uc003lpz.1_Silent_p.Y621Y|ABLIM3_uc003lqa.1_Silent_p.Y518Y|ABLIM3_uc003lqb.3_Silent_p.Y510Y|ABLIM3_uc003lqc.1_Silent_p.Y588Y|ABLIM3_uc003lqd.1_Silent_p.Y526Y|ABLIM3_uc003lqe.1_Silent_p.Y510Y|ABLIM3_uc003lqf.3_Silent_p.Y510Y	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	621	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAGATCTACCCTTATGAAC	0.502000														79			33		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														117			10		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691988	20691988	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:20691988G>A	uc010tlc.2	+	0	120	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTCAAAGGGAGATGCAGAGCT	0.473000														102			45		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897034	36897034	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:36897034G>A	uc003cgj.3	-	11	4295	c.4047C>T	c.(4045-4047)agC>agT	p.S1349S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1349					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						GACTGAAGAGGCTGTAGATCT	0.483000														113			20		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657608	17657608	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:17657608G>A	uc001baj.2	+	1	265	c.237G>A	c.(235-237)acG>acA	p.T79T	PADI4_uc009vpc.2_Silent_p.T79T	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	79			T -> M (in dbSNP:rs35809521).		chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGACCCTGACGATGAAAGTGG	0.602000														74			19		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779932	18779933	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:18779932_18779933GG>AA	uc002njz.1	+	2	1752_1753	c.1725_1726GG>AA	c.(1723-1728)acgggc>acAAgc	p.G576S		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	576										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACAACGTCACGGGCATCGTACA	0.653000														39			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583502	179583502	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179583502G>A	uc021vsy.1	-	80	20918	c.20693C>T	c.(20692-20694)cCa>cTa	p.P6898L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3559L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7825	Ig-like 50.						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)			ACTTTCTAATGGCTGCACCTC	0.463000														48			28		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875853	39875853	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:39875853C>T	uc001zkh.3	+	3	842	c.663C>T	c.(661-663)acC>acT	p.T221T		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	221	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTTTGGAACCACACCAGAAG	0.522000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			21		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449275	9449275	+	Silent	SNP	C	T	T	rs144121082		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:9449275C>T	uc021wam.1	+	31	3285	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A	PLCB4_uc010gbx.3_Silent_p.A1102A|PLCB4_uc021wal.1_Silent_p.A1090A|PLCB4_uc002wnh.3_Silent_p.A937A	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1090					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.A1090V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAGCAAAGCCATCAGCCAAG	0.423000														142			24		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945226	96945226	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:96945226C>T	uc010how.1	+	3	1276	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	EPHA6_uc003drp.1_Silent_p.F411F	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	316	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGGGTTATTTCCGAGCTGAAA	0.378000														103			28		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306899	54306899	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:54306899G>A	uc021smr.1	+	0	1799	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	UNC13C_uc021sms.1_Missense_Mutation_p.S600N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	600					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)		CTGTATGACAGTCCCAAGGAC	0.473000														116			20		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172011255	172011255	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:172011255C>T	uc001gie.3	+	7	1275	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	DNM3_uc001gid.4_Missense_Mutation_p.H367Y|DNM3_uc009wwb.2_Missense_Mutation_p.H367Y|DNM3_uc001gif.3_Missense_Mutation_p.H367Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	367					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTATTTTTCATGAACGCTT	0.358000														58			17		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615338	105615338	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:105615338G>A	uc001yqg.3	-	13	2246	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	JAG2_uc001yqf.3_Silent_p.S18S|JAG2_uc001yqh.3_Silent_p.S576S	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	614	EGF-like 10; atypical.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCCTGGCTGGCTGACGCAGC	0.652000														19			6		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192196	24192196	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:24192196G>A	uc002dmd.3	+	12	1677	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PRKCB_uc002dme.3_Missense_Mutation_p.D494N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	494	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAACATCTGGGATGGGGTGAC	0.507000														106			17		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755672	35755672	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:35755672C>T	uc003old.4	+	2	308	c.251C>T	c.(250-252)cCc>cTc	p.P84L		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	84					digestion|lipid catabolic process	extracellular region	enzyme activator activity										AGAGCGTGTCCCTGCCTGCGG	0.522000														68			13		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122333	12122333	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:12122333C>T	uc003nac.3	+	3	2484	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S	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.	769					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)				TAGTGTGAAGCCGCGGAGAAC	0.453000														46			19		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158914673	158914673	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:158914673G>A	uc003qrf.3	+	9	3057	c.1700G>A	c.(1699-1701)cGg>cAg	p.R567Q	TULP4_uc003qrg.3_Missense_Mutation_p.R567Q	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	567					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R567L(2)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGGTCCCCACGGTTGCCCCTG	0.647000														57			28		0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114956	124114956	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:124114956G>A	uc001ufm.3	-	2	459	c.240C>T	c.(238-240)tcC>tcT	p.S80S	EIF2B1_uc010tat.2_Silent_p.S80S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	80					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTATTCCAGGGAGGCAAGAC	0.537000														73			11		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83963383	83963383	+	Missense_Mutation	SNP	C	T	T	rs142401926		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:83963383C>T	uc003pjy.3	-	6	1044	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	ME1_uc011dzb.2_Missense_Mutation_p.R185Q|ME1_uc011dzc.2_Missense_Mutation_p.R94Q	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	260					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATACTGGTTTCGATACTTGTT	0.318000														80			16		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321406	90321406	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:90321406C>T	uc004apc.3	+	25	3558	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	DAPK1_uc004apd.3_Silent_p.F1140F|DAPK1_uc011ltg.2_Silent_p.F1074F|DAPK1_uc011lth.2_Silent_p.F877F|DAPK1_uc004apg.2_Silent_p.F117F	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1140					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCACCCCCTTCCCATGTGGCA	0.607000									Chronic Lymphocytic Leukemia, Familial Clustering of					57			10		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254496	155254496	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:155254496C>T	uc001fjz.1	+	3	1045	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	HCN3_uc010pfz.1_Missense_Mutation_p.A41V	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	346						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCGGCCATGCCACGGCACTC	0.612000														37			12		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:82421735G>A	uc001dit.4	+	9	2138	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E653K|LPHN2_uc001div.3_Missense_Mutation_p.E653K|LPHN2_uc009wcd.3_Missense_Mutation_p.E653K|LPHN2_uc001diw.3_Missense_Mutation_p.E237K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358000														57			15		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40568177	40568177	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:40568177C>T	uc010bbl.3	+	10	2368	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	PAK6_uc010bbm.3_Missense_Mutation_p.P643L|PAK6_uc001zky.4_Missense_Mutation_p.P598L|PAK6_uc010bbn.3_Missense_Mutation_p.P643L|PAK6_uc001zlb.3_Missense_Mutation_p.P643L	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	643	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTGCGGGACCCCCAAGAGAGA	0.612000														139			65		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602170	58602170	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:58602170C>T	uc001nnd.4	-	5	748	c.617G>A	c.(616-618)gGt>gAt	p.G206D	GLYATL2_uc009ymq.3_Missense_Mutation_p.G206D	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	206						mitochondrion	glycine N-acyltransferase activity	p.G206C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCCCTCTGGACCCAGCACACC	0.473000														67			12		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982082	75982082	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:75982082C>T	uc002baw.3	-	2	1417	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	442	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTGTGCCCCCCTCGGCCACC	0.637000														127			11		0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72383425	72383425	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:72383425C>T	uc003kcl.3	+	24	2371	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	FCHO2_uc011csl.2_Missense_Mutation_p.S719F|FCHO2_uc010izb.3_Missense_Mutation_p.S180F|FCHO2_uc011csn.2_Missense_Mutation_p.S180F	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	752										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGTTCTGGGTCCCTCCGAGCA	0.393000														36			21		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697113	113697113	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:113697113G>A	uc003eax.3	-	15	2673	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	842										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACCAGGCCCTGAAAATCTTCT	0.423000														82			17		0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109415048	109415048	+	Missense_Mutation	SNP	G	A	A	rs143075960		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:109415048G>A	uc003psu.3	-	0	661	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	CEP57L1_uc003psw.4_5'Flank|CEP57L1_uc010kdk.3_5'Flank|CEP57L1_uc003psx.4_5'Flank|CEP57L1_uc010kdl.3_5'Flank	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	175					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		p.P77>?(2)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TCTTTGAAGGGACACCTCTTA	0.398000														74			23		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284542	284542	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:284542C>T	uc010qvs.2	+	6	2440	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L	NLRP6_uc010qvt.2_Silent_p.L813L	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	814						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCCCTGCCCTGACCACCCT	0.677000														31			5		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191692	23191692	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:23191692C>T	uc009vqj.1	+	4	1435	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	EPHB2_uc001bge.3_Silent_p.T430T|EPHB2_uc001bgf.3_Silent_p.T430T|EPHB2_uc010odu.2_Silent_p.T430T|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	430					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGAACATCACCACCAACCAGG	0.607000														84			9		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37381674	37381674	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:37381674C>T	uc002hrs.3	-	0	367	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	STAC2_uc010cvt.3_5'UTR	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	28					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ACCTTGGTTTCCTGGAGGGCG	0.716000														22			5		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390970	18390970	+	Missense_Mutation	SNP	A	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:18390970A>C	uc003cbh.3	-	10	3719	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	SATB1_uc003cbi.3_Missense_Mutation_p.F694V|SATB1_uc003cbj.3_Missense_Mutation_p.F662V	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	662					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCTTGTATGAAACTCTGGAGG	0.527000														106			16		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694331	106694331	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:106694331G>A	uc010fjf.3	+	3	504	c.396G>A	c.(394-396)cgG>cgA	p.R132R		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	132						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTGGTCCCCGGAGCCCCTACG	0.463000														71			15		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26857820	26857820	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:26857820G>A	uc010crm.3	+	5	1082	c.884G>A	c.(883-885)aGc>aAc	p.S295N	FOXN1_uc002hbj.3_Missense_Mutation_p.S295N	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	295					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTTCCCGTCAGCGAGATCTAC	0.527000														65			7		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180606	124180606	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:124180606C>T	uc010sag.2	-	0	57	c.57G>A	c.(55-57)caG>caA	p.Q19Q		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCTGCTTGCTGTGTTAAAC	0.448000														131			24		0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6253066	6253066	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:6253066G>A	uc001amd.3	-	2	212	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	RPL22_uc001ame.3_Missense_Mutation_p.L56F	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCACCAAGGTTCCCAGCT	0.468000			T	RUNX1	"""AML, CML"""									135			37		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123597629	123597629	+	Silent	SNP	A	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:123597629A>C	uc001pzd.1	-	8	1423	c.1023T>G	c.(1021-1023)ccT>ccG	p.P341P	ZNF202_uc001pzc.1_Silent_p.P117P|ZNF202_uc001pze.1_Silent_p.P341P|ZNF202_uc001pzf.1_Silent_p.P341P	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	341					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTCCCAAAACAGGCCTGTGTA	0.423000														209			48		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542549	2542549	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:2542549C>T	uc002wgf.1	+	3	462	c.447C>T	c.(445-447)tcC>tcT	p.S149S	TMC2_uc002wgg.1_Silent_p.S133S|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	149	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTCCCTGTCCGAGGAGGAAC	0.607000														50			11		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21954063C>T	uc001rfh.3	-	37	4585	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000														80			9		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360648	40360648	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:40360648C>T	uc003oph.1	-	2	1869	c.1404G>A	c.(1402-1404)atG>atA	p.M468I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	468	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGCTGGGATCATCCTGGGGA	0.577000														38			5		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727769	119727769	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:119727769C>T	uc002tln.1	+	2	411	c.279C>T	c.(277-279)tcC>tcT	p.S93S	MARCO_uc010yyf.1_Silent_p.S15S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	93					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.P92K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAGCCCGTCCTTCTCCTTGC	0.627000														79			14		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742509	3742509	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:3742509G>A	uc002kmf.3	-	5	1703	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	DLGAP1_uc010wyz.2_Silent_p.I392I|DLGAP1_uc010dkn.3_Silent_p.I90I|DLGAP1_uc002kme.2_Silent_p.I90I|DLGAP1_uc010wyw.2_Silent_p.I98I|DLGAP1_uc010wyx.2_Silent_p.I104I|DLGAP1_uc010wyy.2_Silent_p.I104I|DLGAP1_uc002kmg.3_Silent_p.I90I|DLGAP1_uc002kmk.2_Silent_p.I392I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	392					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTCATTGGAGATTCTGGAAG	0.473000														35			8		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571830	166571830	+	Nonsense_Mutation	SNP	C	T	T	rs144704487		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:166571830C>T	uc003qut.1	-	7	1570	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	T_uc003quu.1_Nonsense_Mutation_p.W427*|T_uc003quv.1_Nonsense_Mutation_p.W369*	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	427					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACACAGGTGTCCATGAGGCTA	0.612000									Chordoma, Familial Clustering of					133			41		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176073	8176073	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:8176073G>A	uc003wsh.4	-	4	3812	c.3812C>T	c.(3811-3813)gCc>gTc	p.A1271V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1271	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGCAGCTGGGCGCGCACCTC	0.637000														40			17		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171690	4171690	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:4171690C>T	uc002lzl.3	+	9	1226	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	CREB3L3_uc002lzm.3_Silent_p.R360R|CREB3L3_uc010xib.2_Silent_p.R359R|CREB3L3_uc010xic.2_Missense_Mutation_p.R326C	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	370					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTCCCGCGTGGCTGCTG	0.647000														97			19		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35796507	35796507	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:35796507G>A	uc003anu.4	+	1	170	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	MCM5_uc003anv.4_Missense_Mutation_p.A26T	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	26					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	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGAGGGGCAGGCCCGCAAATC	0.637000														57			9		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117071542	117071542	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:117071542C>T	uc011lxl.2	+	59	5220	c.5220C>T	c.(5218-5220)gtC>gtT	p.V1740V	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.V55V	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1740	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTATAGGTCGAGTTTGCCA	0.602000														197			36		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293353	152293353	+	Missense_Mutation	SNP	C	T	T	rs145491800		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:152293353C>T	uc002txm.3	+	11	1369	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	RIF1_uc010fnv.2_Missense_Mutation_p.P367L|RIF1_uc002txn.3_Missense_Mutation_p.P403L|RIF1_uc002txl.3_Missense_Mutation_p.P403L|RIF1_uc002txo.3_Missense_Mutation_p.P403L|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	403					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCTTCCTCCCCGTACGGAGCC	0.398000														38			12		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542442	47542442	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47542442C>T	uc002zia.1	+	19	1687	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	COL6A2_uc002zhz.1_Silent_p.P535P|COL6A2_uc002zhy.1_Silent_p.P535P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	535	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGCGGCCCCGAGGTATGTG	0.642000														46			10		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307448	39307448	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:39307448C>T	uc021wwc.1	-	1	689	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CX3CR1_uc021wwa.1_Missense_Mutation_p.E185K|CX3CR1_uc021wwb.1_Missense_Mutation_p.E185K|CX3CR1_uc003cjl.3_Missense_Mutation_p.E185K|CX3CR1_uc021wwd.1_Missense_Mutation_p.E185K	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	185					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGCCAGATTTCCTGGAGGACC	0.502000														125			21		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081237	7081237	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7081237G>A	uc001mfb.1	+	8	3069	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	916					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACAAGACAATGGAGTGAAGCT	0.418000														201			41		0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50646016	50646016	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:50646016G>A	uc010hlq.3	-	2	367	c.80C>T	c.(79-81)cCt>cTt	p.P27L	CISH_uc003dax.3_Missense_Mutation_p.P10L	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	10					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCCAGCAAAGGACGAGGTCT	0.632000														15			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711318	140711318	+	Missense_Mutation	SNP	T	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:140711318T>A	uc003lji.2	+	0	1067	c.1067T>A	c.(1066-1068)gTt>gAt	p.V356D	PCDHGC5_uc011dan.2_Missense_Mutation_p.V356D	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	359	Cadherin 4.				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)			ACCACTGCAGTTCCAGAAAAC	0.458000														45			32		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842094	5842094	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5842094C>T	uc010qzp.2	+	0	529	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTTCATCCCCCACACCTA	0.517000														166			45		0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9310020	9310020	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:9310020G>A	uc001mhm.3	-	3	758	c.431C>T	c.(430-432)cCc>cTc	p.P144L	TMEM41B_uc001mhn.2_Missense_Mutation_p.P144L	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	144						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TAGTGGAAAGGGATAAAGAAA	0.313000														41			6		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625224	23625224	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:23625224C>T	uc003swk.2	-	0	923	c.273G>A	c.(271-273)aaG>aaA	p.K91K						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CAGCTGTGCTCTTCACACTGC	0.498000														109			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463252	179463252	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179463252C>T	uc021vsy.1	-	240	49613	c.49388G>A	c.(49387-49389)gGa>gAa	p.G16463E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G10158E|TTN_uc021vta.1_Missense_Mutation_p.G10091E|TTN_uc021vtb.1_Missense_Mutation_p.G9966E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17390	Fibronectin type-III 19.						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)			TTCTTCTTTTCCTTCTTCTTT	0.368000														48			7		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876152	4876152	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:4876152G>T	uc003snj.1	-	2	793	c.620C>A	c.(619-621)cCt>cAt	p.P207H	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwc.1_5'UTR|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	207					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCGGGGTGGAGGAGAGCTCCG	0.731000														25			9		0.00448238	0.00454449	1	1	0
OR5I1	10798	broad.mit.edu	37	11	55703609	55703610	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:55703609_55703610CC>TT	uc010ris.2	-	0	267_268	c.267_268GG>AA	c.(265-270)tcggag>tcAAag	p.E90K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTGTTCTCCGAGAGGAAAT	0.406000														62			13		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538475	1538475	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:1538475C>T	uc002fsz.1	-	10	2120	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Silent_p.T604T	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	690	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCATGTAGATCGTGGTCACAG	0.657000														43			22		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54581585	54581585	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:54581585G>A	uc003jpx.3	-	8	1291	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	391							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTCTTGGGAAGATTCTTCCTG	0.348000														52			10		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257737	70257737	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:70257737C>T	uc001dep.3	+	1	231	c.201C>T	c.(199-201)aaC>aaT	p.N67N	LRRC7_uc001deo.1_Silent_p.N105N|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	67						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATTGTTCAACTGTCAAGCTC	0.299000														84			14		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111693340	111693340	+	Silent	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:111693340T>C	uc004bdm.4	-	1	607	c.87A>G	c.(85-87)gaA>gaG	p.E29E	IKBKAP_uc011lwc.2_Intron|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	29					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCGTCCCCTGTTCAGTTCGGA	0.468000														87			34		0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43460316	43460316	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:43460316G>A	uc003bdi.3	-	5	759	c.518C>T	c.(517-519)tCt>tTt	p.S173F	TTLL1_uc010gzh.3_Missense_Mutation_p.S173F|TTLL1_uc021wqt.1_Missense_Mutation_p.S135F|TTLL1_uc003bdj.3_Missense_Mutation_p.S59F	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	173	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCCTTATTAGATTGAGACAC	0.413000														59			24		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486444	45486444	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:45486444G>A	uc001cnd.2	-	11	2694	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	822							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAATTGTTCGGAGTCTCAAAG	0.423000														208			47		0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580552	39580552	+	RNA	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:39580552C>T	uc010gnt.2	+	2		c.674C>T								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		GGTTTGCCATCGAAGGAAAAC	0.408000														279			69		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813514	101813514	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:101813514G>A	uc003knn.3	-	2	840	c.668C>T	c.(667-669)tCa>tTa	p.S223L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.S223L|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	223						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGATTGGAATGATATACCACT	0.348000														116			39		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505715	130505715	+	Missense_Mutation	SNP	G	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:130505715G>T	uc003qbw.3	-	5	765	c.437C>A	c.(436-438)tCc>tAc	p.S146Y	SAMD3_uc003qbx.3_Missense_Mutation_p.S146Y|SAMD3_uc010kfg.1_Missense_Mutation_p.S146Y|SAMD3_uc003qby.3_Missense_Mutation_p.S146Y|SAMD3_uc003qbz.1_Missense_Mutation_p.S105Y	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	146										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAAAACATAGGACTTCGTCCA	0.373000														39			16		6.72482e-11	6.96273e-11	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100219419	100219419	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:100219419C>T	uc001kpn.2	-	11	1764	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	HPSE2_uc009xwc.2_3'UTR|HPSE2_uc001kpo.2_Missense_Mutation_p.R506Q|HPSE2_uc009xwd.2_Missense_Mutation_p.R452Q	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	564					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.R564Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGGCCGGCCCGAAGGGGGCG	0.552000														34			14		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853396	29853396	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:29853396G>A	uc002dui.3	+	9	1749	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.D533N|MVP_uc010vea.2_Missense_Mutation_p.D127N	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	533					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGAAACGGCGGATCATGCCAG	0.622000														16			3		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9319581	9319581	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:9319581C>T	uc021wam.1	+	3	281	c.266C>T	c.(265-267)tCa>tTa	p.S89L	PLCB4_uc010gbw.1_Missense_Mutation_p.S89L|PLCB4_uc010gbx.3_Missense_Mutation_p.S89L|PLCB4_uc021wal.1_Missense_Mutation_p.S89L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	89					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTTGGAAAATCAGAAAATGAT	0.403000														82			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815418	61815418	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:61815418T>C	uc001jky.3	-	41	13401	c.13063A>G	c.(13063-13065)Aag>Gag	p.K4355E	ANK3_uc001jkw.3_Missense_Mutation_p.K979E|ANK3_uc009xpa.3_Missense_Mutation_p.K979E|ANK3_uc001jkx.3_Missense_Mutation_p.K1023E|ANK3_uc010qih.2_Missense_Mutation_p.K1846E|ANK3_uc001jkz.4_Missense_Mutation_p.K1839E|ANK3_uc001jkv.3_Missense_Mutation_p.K378E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4355					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACGTACCTTTTGCTCAGAC	0.488000														183			68		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258072	139258072	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:139258072C>T	uc003vvf.4	-	14	3469	c.3198G>A	c.(3196-3198)atG>atA	p.M1066I	HIPK2_uc003vvd.4_Missense_Mutation_p.M1039I	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1066	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAGCCTGGGCCATGGTGGGAG	0.677000														89			37		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75682143	75682143	+	Missense_Mutation	SNP	A	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:75682143A>T	uc002bai.3	-	15	3130	c.2871T>A	c.(2869-2871)gaT>gaA	p.D957E	SIN3A_uc002baj.3_Missense_Mutation_p.D957E|SIN3A_uc010uml.2_Missense_Mutation_p.D957E	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	957					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTGGGTAATAATCTTCTACAT	0.473000														122			53		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238933	104238933	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:104238933G>A	uc004bbm.3	-	1	764	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.R148C	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	148						integral to membrane											CTCACACTACGCTCCACGTTG	0.552000														121			11		0	0	1	0	0
TCR	0	broad.mit.edu	37	14	22740184	22740184	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:22740184G>A	uc001wdn.3	+	1	121	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TCRA_uc001wbw.2_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GTCTCAACCAGAGATGTCTGT	0.483000														10			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434605	179434605	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179434605G>A	uc021vsy.1	-	274	68775	c.68550C>T	c.(68548-68550)acC>acT	p.T22850T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T16545T|TTN_uc021vta.1_Silent_p.T16478T|TTN_uc021vtb.1_Silent_p.T16353T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23777	Ig-like 117.						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)			CTGAAGATCTGGTTATGTCTA	0.408000														80			9		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184743	105184743	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:105184743G>A	uc001kwy.1	+	19	2853	c.2766G>A	c.(2764-2766)ctG>ctA	p.L922L		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	922					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTTCTAGCTGAGGAAAGGCA	0.567000														53			23		0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175676283	175676283	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:175676283C>T	uc002uji.3	-	9	1261	c.920G>A	c.(919-921)gGa>gAa	p.G307E	CHN1_uc010zeq.2_Missense_Mutation_p.G281E|CHN1_uc002ujj.3_Missense_Mutation_p.G82E|CHN1_uc002ujg.3_Missense_Mutation_p.G182E	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	307	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTCACTAAATCCTGATACTCG	0.328000			T	TAF15	extraskeletal myxoid chondrosarcoma									20			3		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079486	38079486	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:38079486G>A	uc001cbl.2	-	6	1407	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RSPO1_uc009vvf.2_Missense_Mutation_p.S145F|RSPO1_uc001cbm.2_Missense_Mutation_p.S172F|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	172	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCTCCTCGGAGCCCCTCCG	0.637000														67			14		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443871	10443871	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:10443871C>T	uc003bvt.3	-	3	998	c.559G>A	c.(559-561)Gag>Aag	p.E187K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E187K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E187K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E187K|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.	187					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						TGTTCCTGCTCGATGCGGCTC	0.572000														233			35		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14863024	14863024	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:14863024G>A	uc003bzc.3	+	0	2556	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	FGD5_uc011avk.2_Missense_Mutation_p.E816K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	816					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACAGCAAACGAAAATGATGG	0.522000														89			10		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360080	21360080	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:21360080G>C	uc021roq.1	+	0	235	c.235G>C	c.(235-237)Gtt>Ctt	p.V79L	RNASE3_uc001vyj.3_Missense_Mutation_p.V79L	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	79					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGCTAATGTAGTTAATGTTTG	0.428000														111			35		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678950	130678950	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:130678950G>A	uc011muw.2	+	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGGCAATAAGGAAAGTTATGT	0.378000														78			27		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:11505373G>A	uc001iks.1	-	13	1648	c.1605C>T	c.(1603-1605)acC>acT	p.T535T	USP6NL_uc001ikt.3_Silent_p.T518T	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	518						intracellular	Rab GTPase activator activity	p.T535T(4)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000														174			57		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431769	140431769	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:140431769C>T	uc003lik.1	+	0	791	c.714C>T	c.(712-714)caC>caT	p.H238H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	238	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAACGACCACGTGCCCCAGT	0.597000														33			9		0	0	1	0	0
GOLGA8E	390535	broad.mit.edu	37	15	23444016	23444016	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:23444016G>A	uc001yvu.3	+	13	1686	c.671G>A	c.(670-672)gGa>gAa	p.G224E	JA429730_uc021sfs.1_5'Flank					Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA.											endometrium(1)|kidney(1)|lung(3)|skin(1)	6		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;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)		GGACACGGAGGAGAACATCTG	0.617000														83			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866862	70866863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:70866862_70866863GG>AA	uc002ezr.3	-	79	13935_13936	c.13784_13785CC>TT	c.(13783-13785)acc>aTT	p.T4595I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4596										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)				TTCCCACCTCGGTGGGATGGTA	0.490000														31			5		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840791	107840791	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:107840791G>A	uc022ccg.1	+	23	1974	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E	COL4A5_uc004enz.1_Missense_Mutation_p.G591E|COL4A5_uc004eob.1_Missense_Mutation_p.G199E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	591	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						GGCCCGAAAGGAGAGCCTGTG	0.468000									Alport syndrome with Diffuse Leiomyomatosis					36			10		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:56904075C>T	uc002ekd.4	+	4	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_uc010ccm.3_Silent_p.F223F|SLC12A3_uc010ccn.3_Silent_p.F222F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000														84			12		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142247212C>T	uc003vyd.4	-	1	269	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGAACCGATCGTTGGGCAGC	0.572000														106			25		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98557092	98557092	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:98557092C>T	uc003upp.3	+	43	6656	c.6447C>T	c.(6445-6447)ttC>ttT	p.F2149F	TRRAP_uc011kis.2_Silent_p.F2131F|TRRAP_uc003upr.3_Silent_p.F1848F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2149	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAGTGGTTCGACAAGCTGC	0.617000														70			18		0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134018460	134018460	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:134018460G>A	uc001qhb.2	+	6	890	c.866G>A	c.(865-867)gGa>gAa	p.G289E	JAM3_uc009zcz.2_Missense_Mutation_p.G193E	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	244					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AACATTGGCGGAATTATTGGG	0.488000														78			8		0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054540	76054540	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:76054540G>A	uc003ufd.4	+	0	269	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ZP3_uc003ufc.4_Missense_Mutation_p.E36K	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	87	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	p.E36*(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATGGACACAGAAGATGTGGT	0.587000														46			13		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21032466C>A	uc010sil.2	+	8	1297	c.1232C>A	c.(1231-1233)tCa>tAa	p.S411*	SLCO1B3_uc001rek.3_Nonsense_Mutation_p.S411*|SLCO1B3_uc001rel.3_Nonsense_Mutation_p.S411*|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000														43			4		0.150653	0.151343	1	1	0
KIRREL3	84623	broad.mit.edu	37	11	126314917	126314917	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:126314917G>A	uc001qea.3	-	9	1570	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	KIRREL3_uc001qeb.3_Silent_p.P403P|KIRREL3_uc001qec.1_Silent_p.P403P	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	403	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCCCACACGGGGCACCACAG	0.632000														62			12		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006898	141006898	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:141006898C>T	uc004cog.3	+	38	5616	c.5471C>T	c.(5470-5472)tCc>tTc	p.S1824F	CACNA1B_uc022bqn.1_Missense_Mutation_p.S1824F|CACNA1B_uc004coi.3_Missense_Mutation_p.S1038F|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.S106F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1826					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGGAGATTTCCGTTGTGTGG	0.547000														52			16		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354795	31354795	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:31354795G>A	uc001wqr.2	+	9	1009	c.929G>A	c.(928-930)gGg>gAg	p.G310E	COCH_uc001wqp.2_Missense_Mutation_p.G310E|COCH_uc001wqq.4_Missense_Mutation_p.G310E|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.G161E	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	310	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAAGAACTGGGGATGGTTCAG	0.458000														61			30		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590564	33590564	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:33590564G>A	uc021vft.1	+	30	4728	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N	LTBP1_uc002rou.3_Missense_Mutation_p.D1243N|LTBP1_uc002rov.3_Missense_Mutation_p.D1190N|LTBP1_uc010ymz.2_Missense_Mutation_p.D1201N|LTBP1_uc010yna.2_Missense_Mutation_p.D1148N|LTBP1_uc010ynb.2_Missense_Mutation_p.D467N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1569	TB 4.				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)				CCCCCTGAAGGATTCAGGTGA	0.542000														53			13		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257759	18257759	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:18257759C>T	uc022asl.1	+	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I	NAT2_uc003wyw.1_Silent_p.I82I	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	82					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCACAATCGGTTTTCAGA	0.468000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					114			36		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71420166	71420166	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:71420166C>T	uc010dfm.3	-	12	1649	c.1649G>A	c.(1648-1650)aGa>aAa	p.R550K	SDK2_uc010dfn.2_Missense_Mutation_p.R229K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	550	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGAGCCGTTTCTGTCCAGGCG	0.597000														15			4		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467743	50467743	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:50467743C>T	uc003tow.4	+	7	1133	c.978C>T	c.(976-978)tcC>tcT	p.S326S	IKZF1_uc022acq.1_Silent_p.S183S|IKZF1_uc003tpa.4_Silent_p.S91S|IKZF1_uc022acr.1_Silent_p.S101S|IKZF1_uc022acs.1_Silent_p.S56S|IKZF1_uc022act.1_Silent_p.S229S|IKZF1_uc022acu.1_Silent_p.S239S|IKZF1_uc003tox.4_Silent_p.S284S|IKZF1_uc022acv.1_Silent_p.S187S|IKZF1_uc022acw.1_Silent_p.S197S|IKZF1_uc022acx.1_Silent_p.S239S|IKZF1_uc022acy.1_Silent_p.S133S|IKZF1_uc022acz.1_Silent_p.S143S|IKZF1_uc011kck.2_Silent_p.S239S|IKZF1_uc003toy.4_Silent_p.S284S|IKZF1_uc003toz.4_Silent_p.S296S|IKZF1_uc010kyx.3_Silent_p.S66S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	326					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGCCGAGTCCCTGCGCCCGC	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""									11			5		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207613772	207613772	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:207613772C>T	uc002vbs.3	-	6	1243	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Silent_p.E396E|MDH1B_uc021vvm.1_Silent_p.E298E	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	396					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)		AAGATACAATCTCCCCAGGTG	0.398000														51			26		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27420013	27420013	+	Missense_Mutation	SNP	G	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:27420013G>C	uc002hdt.1	-	32	5091	c.4933C>G	c.(4933-4935)Cgg>Ggg	p.R1645G	MYO18A_uc010wbc.1_Missense_Mutation_p.R1178G|MYO18A_uc002hds.2_Missense_Mutation_p.R1187G|MYO18A_uc010csa.1_Missense_Mutation_p.R1608G|MYO18A_uc002hdu.1_Missense_Mutation_p.R1645G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1645					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCCCGCCGGTTCACCTGG	0.607000														23			4		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676681	44676681	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:44676681C>T	uc010zxl.1	+	15	2114	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.L657F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	680					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGCTATGCCCTCTTACGCCT	0.592000														24			3		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061516	12061516	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:12061516G>A	uc002dbv.3	+	2	585	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.V74M	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	123					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CGAGTACACGGTGGAAGAATG	0.493000			T	IL2	intestinal T-cell lymphoma									84			10		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619381	108619381	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:108619381C>T	uc022cch.1	-	16	3251	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E1056K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	1056					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.E1055*(1)|p.E1055D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAAGGTTTCCTCTGTGCCT	0.403000														109			46		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058241	92058242	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:92058241_92058242CC>TT	uc001xzs.1	-	22	2954_2955	c.2814_2815GG>AA	c.(2812-2817)agggaa>agAAaa	p.E939K	CATSPERB_uc010aub.1_Missense_Mutation_p.E461K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	939					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.E939K(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTACTTTTTCCCTGCAATCCG	0.366000														68			31		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														18			3		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970713	74970713	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:74970713C>T	uc001xqa.3	-	30	4885	c.4498G>A	c.(4498-4500)Ggc>Agc	p.G1500S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1500	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCACCGGCCGTTCGGGCAG	0.567000														27			12		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486818	84486818	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:84486818G>A	uc010chj.3	+	18	1995	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E636K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E653K|ATP2C2_uc002fhz.3_Missense_Mutation_p.E485K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	636					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.E636*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGAGAAGGGCGAGCTGGCCGA	0.622000														64			14		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634538	156634538	+	Missense_Mutation	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:156634538C>T	uc003iov.3	+	7	1911	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	GUCY1A3_uc010iqc.2_Missense_Mutation_p.P459S|GUCY1A3_uc010iqd.3_Missense_Mutation_p.P458S|GUCY1A3_uc003iow.3_Missense_Mutation_p.P459S|GUCY1A3_uc003iox.3_Missense_Mutation_p.P459S|GUCY1A3_uc010iqe.3_Missense_Mutation_p.P224S|GUCY1A3_uc003ioy.3_Missense_Mutation_p.P459S|GUCY1A3_uc003ioz.3_Missense_Mutation_p.P224S|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.P459S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	459					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTCCATATTTCCCTGTGAGGT	0.522000														61			20		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400597	10400597	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:10400597G>A	uc003bvt.3	-	13	2353	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	ATP2B2_uc003bvv.3_Silent_p.I593I|ATP2B2_uc003bvw.3_Silent_p.I593I|ATP2B2_uc010hdo.3_Silent_p.I343I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	638					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						CCCCATTGAGGATTTTGCAGC	0.607000														26			5		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723582	142723582	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142723582G>A	uc003wcc.1	-	0	638	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GTAGGTGTAGGAGACAATCGT	0.453000														150			15		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605571	171605572	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:171605571_171605572GG>AA	uc001ghu.3	-	2	1030_1031	c.1008_1009CC>TT	c.(1006-1011)ttccag>ttTTag	p.Q337*	MYOC_uc010pmk.2_Nonsense_Mutation_p.Q279*	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	337	Olfactomedin-like.		Q -> E (in GLC1A).|Q -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCAGCGCCCTGGAAATAGAGGC	0.535000														100			15		0	0	1	0	0
FAM123A	219287	broad.mit.edu	37	13	25744447	25744447	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:25744447C>T	uc001uqb.3	-	0	1411	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	FAM123A_uc001uqa.3_Silent_p.Q318Q|FAM123A_uc001uqc.3_Silent_p.Q318Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	437										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCAGAACTCCTGTAGATAGG	0.652000														35			10		0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177954	92177954	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:92177954G>A	uc001doh.3	-	12	2527	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.P629L|TGFBR3_uc001doi.3_Missense_Mutation_p.P670L|TGFBR3_uc001doj.3_Missense_Mutation_p.P670L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	671	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACTCTCTTGGGACTGTAGAA	0.418000														131			16		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183480001	183480001	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:183480001C>T	uc003fly.2	+	14	2076	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	627					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGCTGTGTCCCCTCAAAAAC	0.537000														68			24		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436958	72436958	+	Missense_Mutation	SNP	C	T	T	rs147088573		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:72436958C>T	uc002jkp.3	+	1	1689	c.1178C>T	c.(1177-1179)cCg>cTg	p.P393L	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.P360L|GPRC5C_uc002jkt.3_Missense_Mutation_p.P348L|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	348						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ATGGATGAGCCGGTTGCAGGT	0.557000														43			11		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057492	57057492	+	Silent	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:57057492G>A	uc002iwx.3	+	6	1495	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PPM1E_uc010ddd.3_Silent_p.E219E	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	465	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACCTGAAAGAGAATAATGGAG	0.498000														50			9		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160103	132160103	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:132160103G>A	uc011mvf.2	-	0	2198	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	USP26_uc010nrm.1_Missense_Mutation_p.P716S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	716					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAGTAGGATTGATAATC	0.348000														70			26		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826508	43826508	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:43826508G>A	uc010skx.2	-	19	2827	c.2827C>T	c.(2827-2829)Caa>Taa	p.Q943*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.Q97*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.Q97*	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	943	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCATCAACTTGAACAGTCTGT	0.418000														84			13		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746513	47746513	+	Silent	SNP	C	T	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:47746513C>T	uc003gxm.3	-	4	798	c.705G>A	c.(703-705)ccG>ccA	p.P235P	CORIN_uc011bzf.2_Silent_p.P96P|CORIN_uc011bzg.2_Silent_p.P168P|CORIN_uc011bzh.1_Silent_p.P235P|CORIN_uc011bzi.1_Silent_p.P235P|CORIN_uc003gxn.4_Silent_p.P235P	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	235	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGAGGAAATCCGGCCAGGAGT	0.463000														184			26		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593379	74593379	+	Missense_Mutation	SNP	G	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74593379G>A	uc002skx.3	-	22	3070	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Missense_Mutation_p.P784S|DCTN1_uc002sku.3_Missense_Mutation_p.P784S|DCTN1_uc002skw.2_Missense_Mutation_p.P911S|DCTN1_uc010ffd.3_Missense_Mutation_p.P898S|DCTN1_uc002sky.3_Missense_Mutation_p.P881S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	918					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGCTGGGGGGCCGCTCT	0.562000														106			21		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446519	92446519	+	Missense_Mutation	SNP	T	C	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:92446519T>C	uc001dol.4	+	10	1952	c.1534T>C	c.(1534-1536)Tat>Cat	p.Y512H	BRDT_uc010osz.2_Missense_Mutation_p.Y516H|BRDT_uc001dok.4_Missense_Mutation_p.Y512H|BRDT_uc009wdf.3_Missense_Mutation_p.Y439H|BRDT_uc010otb.2_Missense_Mutation_p.Y466H|BRDT_uc010ota.2_Missense_Mutation_p.Y466H|BRDT_uc001dom.4_Missense_Mutation_p.Y512H	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTATGAACTATGATGAGAA	0.353000														67			16		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756949	124756949	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:124756949delC	uc001qbg.3	-	14	2499	c.2359delG	c.(2359-2361)gagfs	p.E787fs	ROBO4_uc010sas.2_Frame_Shift_Del_p.E642fs|ROBO4_uc001qbh.2_Frame_Shift_Del_p.E677fs|ROBO4_uc001qbi.3_Frame_Shift_Del_p.E345fs	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	787					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCTTGATCCTCCCCCAGGGAT	0.617													---	83	---	---	7	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	In_Frame_Del	DEL	AGG	-	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:47302390_47302392delAGG	uc002ios.2	-	2	513_515	c.95_97delCCT	c.(94-99)tcctgc>tgc	p.S32del	PHOSPHO1_uc010wlv.1_Intron|PHOSPHO1_uc021tzr.1_In_Frame_Del_p.S32del	NM_001143804	NP_001137276	Q8TCT1	PHOP1_HUMAN	Homo sapiens phosphatase, orphan 1 (PHOSPHO1), transcript variant 1, mRNA.	0					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.700													---	4	---	---	2	---					
FCGBP	8857	broad.mit.edu	37	19	40376764	40376765	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:40376764_40376765insA	uc002omp.4	-	23	11665_11666	c.11657_11658insT	c.(11656-11658)ttgfs	p.L3886fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3886						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAATCTTTCAAGGGACCCTG	0.584													---	75	---	---	13	---					
FCGBP	8857	broad.mit.edu	37	19	40408387	40408388	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:40408387_40408388insA	uc002omp.4	-	7	4459_4460	c.4451_4452insT	c.(4450-4452)ttgfs	p.L1484fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1484						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAATCTTTCAAGGGACCCTG	0.584													---	46	---	---	11	---					
FAM83C	128876	broad.mit.edu	37	20	33875362	33875366	+	Frame_Shift_Del	DEL	GGAGG	-	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:33875362_33875366delGGAGG	uc021wck.1	-	3	1334_1338	c.1216_1220delCCTCC	c.(1216-1221)cctcctfs	p.P406fs	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	406										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATAGAGCCCAGGAGGGGAGCCGTGG	0.620													---	49	---	---	11	---