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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF578	147660	broad.mit.edu	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:53014631C>A	ENST00000421239.2	+	6	1241	c.997C>A	c.(997-999)Cat>Aat	p.H333N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428000													18	113					6.94344e-10	9.01528e-10	0.038395	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116787	121116787	+	RNA	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:121116787A>G	ENST00000437515.1	-	0	329																											TTCAAGTACTACATCCATGAC	0.473000													7	53					0	0	0.038147	0	0
DMGDH	29958	broad.mit.edu	37	5	78359439	78359439	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:78359439G>T	ENST00000255189.3	-	2	301	c.273C>A	c.(271-273)caC>caA	p.H91Q	DMGDH_ENST00000380311.4_Missense_Mutation_p.R47S|DMGDH_ENST00000540686.1_Missense_Mutation_p.T17K|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	91					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCTTACTGCGTGCCAGGTAG	0.498000													19	105					1.37657e-19	2.10073e-19	0.012319	1	0
RYR2	6262	broad.mit.edu	37	1	237551398	237551398	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:237551398G>T	ENST00000366574.2	+	10	1005	c.688G>T	c.(688-690)Ggt>Tgt	p.G230C	RYR2_ENST00000360064.6_Missense_Mutation_p.G228C|RYR2_ENST00000542537.1_Missense_Mutation_p.G214C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	230	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCTCATTGGTGGTGATGT	0.488000													20	25					3.62473e-10	4.76393e-10	0.012319	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50186578	50186578	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:50186578G>A	ENST00000335999.6	-	11	3733	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1174	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGCACCTCCCGCTCCAGTGTG	0.706000													5	18					0	0	0.008291	0	0
MIR184	406960	broad.mit.edu	37	15	79502162	79502162	+	RNA	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:79502162A>T	ENST00000384962.1	+	0	33					NR_029705.1																						TTTCCAGCCCAGCTTTGTGAC	0.537000													14	61					0	0	0.038395	0	0
TRPC4	7223	broad.mit.edu	37	13	38357421	38357421	+	Missense_Mutation	SNP	C	C	T	rs75129764	byFrequency	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr13:38357421C>T	ENST00000379705.3	-	2	907	c.50G>A	c.(49-51)cGc>cAc	p.R17H	TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	17					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAGAGGGATGCGGTCTCTATA	0.398000													6	366					0	0	0.029380	0	0
SEMA5B	54437	broad.mit.edu	37	3	122680072	122680072	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:122680072G>T	ENST00000195173.4	-	2	342	c.39C>A	c.(37-39)caC>caA	p.H13Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.H13Q|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000451055.2_Missense_Mutation_p.H67Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	13					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGGACGAGGTGGTGGGCAA	0.602000													13	121					2.31682e-05	2.6739e-05	0.024245	1	0
SYT12	91683	broad.mit.edu	37	11	66807603	66807603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:66807603G>T	ENST00000393946.2	+	7	1712	c.550G>T	c.(550-552)Gag>Tag	p.E184*	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.E184*|SYT12_ENST00000525457.1_Nonsense_Mutation_p.E184*			Q8IV01	SYT12_HUMAN	synaptotagmin XII	184	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGAGCGGGAGGAGGCCAGCTT	0.647000													3	11					6.4e-05	7.28358e-05	0.004672	1	0
OGDHL	55753	broad.mit.edu	37	10	50953850	50953850	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:50953850C>A	ENST00000374103.4	-	11	1555	c.1470G>T	c.(1468-1470)gtG>gtT	p.V490V	OGDHL_ENST00000432695.1_Silent_p.V281V|OGDHL_ENST00000419399.1_Silent_p.V433V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	490					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCAGGTCCACGACAACAT	0.557000													8	26					0.00448238	0.00482718	0.004482	1	0
ATR	545	broad.mit.edu	37	3	142204090	142204090	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:142204090C>T	ENST00000350721.4	-	36	6234	c.6113G>A	c.(6112-6114)gGg>gAg	p.G2038E	ATR_ENST00000383101.3_Missense_Mutation_p.G1974E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2038	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAAAAATGCCCATCCTCCCA	0.423000								Other conserved DNA damage response genes					46	128					0	0	0.036044	0	0
NTRK1	4914	broad.mit.edu	37	1	156845459	156845459	+	Splice_Site	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:156845459G>T	ENST00000368196.3	+	11	1603		c.e11+1		NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000524377.1_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(4)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGTGATGCCTGTGAGGGGCTA	0.577000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			18	36					7.45023e-12	1.00797e-11	0.010504	1	0
PTPN13	5783	broad.mit.edu	37	4	87691257	87691257	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:87691257G>T	ENST00000436978.1	+	30	5203	c.4723G>T	c.(4723-4725)Gtc>Ttc	p.V1575F	PTPN13_ENST00000511467.1_Missense_Mutation_p.V1575F|PTPN13_ENST00000316707.6_Missense_Mutation_p.V1379F|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1551F|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1570F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1570	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCCCCAGGAAGTCATATCTGC	0.443000													8	36					0.000157383	0.000176576	0.038147	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113660973	113660973	+	RNA	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:113660973G>T	ENST00000393544.2	+	0	1021																											CAGCAGCAGCGTTGCTGTAAC	0.577000													7	9					0.00307968	0.00332771	0.038147	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724231	140724231	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:140724231G>T	ENST00000253812.6	+	1	631	c.631G>T	c.(631-633)Gtc>Ttc	p.V211F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCTTGTCCTGGTTGC	0.532000													15	59					3.27435e-08	4.0242e-08	0.020292	1	0
ZNF567	163081	broad.mit.edu	37	19	37210123	37210123	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:37210123G>T	ENST00000585696.1	+	3	1634	c.404G>T	c.(403-405)gGg>gTg	p.G135V	ZNF567_ENST00000536254.2_Missense_Mutation_p.G166V|ZNF567_ENST00000392163.2_Missense_Mutation_p.G135V|ZNF567_ENST00000588311.1_Missense_Mutation_p.G135V|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.G135V			Q8N184	ZN567_HUMAN	zinc finger protein 567	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATGGATATGGGAAATCACTC	0.348000													17	70					3.41278e-10	4.50375e-10	0.033300	1	0
NRK	203447	broad.mit.edu	37	X	105197057	105197057	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:105197057G>T	ENST00000428173.2	+	28	4851	c.4548G>T	c.(4546-4548)tgG>tgT	p.W1516C	NRK_ENST00000540278.1_Missense_Mutation_p.W96C|NRK_ENST00000243300.9_Missense_Mutation_p.W1515C			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1515	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCACAGGATGGGGCCAAAAGG	0.423000										HNSCC(51;0.14)			8	27					7.48243e-07	8.95666e-07	0.006214	1	0
FAM120B	84498	broad.mit.edu	37	6	170627007	170627007	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:170627007G>T	ENST00000476287.1	+	2	637	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.G189W|FAM120B_ENST00000537664.1_Missense_Mutation_p.G200W	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	177					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGGATTCTGGGGGAAGACAC	0.478000													37	60					8.69298e-16	1.27815e-15	0.027894	1	0
KAAG1	353219	broad.mit.edu	37	6	24358006	24358006	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:24358006G>T	ENST00000274766.1	+	1	876	c.139G>T	c.(139-141)Gct>Tct	p.A47S	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	47					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						GCCTCAGCTCGCTGCTTCGCG	0.672000													11	9					4.7546e-09	5.9804e-09	0.028581	1	0
TKTL1	8277	broad.mit.edu	37	X	153541038	153541038	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:153541038C>A	ENST00000369915.3	+	6	967	c.778C>A	c.(778-780)Cca>Aca	p.P260T	TKTL1_ENST00000369912.2_Missense_Mutation_p.P204T|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	260					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAATCTTGACCCACAGCCCCC	0.478000													32	62					9.65021e-13	1.32228e-12	0.045705	1	0
CAB39	51719	broad.mit.edu	37	2	231658035	231658035	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:231658035G>T	ENST00000258418.5	+	4	816	c.387G>T	c.(385-387)atG>atT	p.M129I	CAB39_ENST00000410084.3_Missense_Mutation_p.M129I|CAB39_ENST00000409788.3_Missense_Mutation_p.M129I	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	129					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTTTGTTCATGTTATTGAAAG	0.348000													19	133					5.26018e-13	7.26943e-13	0.012319	1	0
TAB2	23118	broad.mit.edu	37	6	149700090	149700090	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:149700090C>A	ENST00000367456.1	+	4	1616	c.1039C>A	c.(1039-1041)Cga>Aga	p.R347R	TAB2_ENST00000536230.1_Silent_p.R315R|TAB2_ENST00000538427.1_Silent_p.R347R|TAB2_ENST00000286332.5_Silent_p.R347R|TAB2_ENST00000392282.1_Silent_p.R347R			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	347					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TTCTGGACCTCGAACCTCCAG	0.433000													5	208					0.00116845	0.00127973	0.021553	1	0
OLFML2B	25903	broad.mit.edu	37	1	161970075	161970075	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:161970075G>A	ENST00000294794.3	-	5	1200	c.777C>T	c.(775-777)atC>atT	p.I259I	OLFML2B_ENST00000367940.2_Silent_p.I260I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	259								p.I259I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCAGAAGTTCGATGGAGTTGA	0.617000													63	102					0	0	0.014410	0	0
FOXA1	3169	broad.mit.edu	37	14	38061776	38061776	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:38061776C>A	ENST00000250448.2	-	2	274	c.213G>T	c.(211-213)ccG>ccT	p.P71P	FOXA1_ENST00000540786.1_Silent_p.P38P|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	71					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCCTAGGCCCGGGTTGGCAT	0.652000													37	47					1.59361e-14	2.27054e-14	0.027894	1	0
ZNF618	114991	broad.mit.edu	37	9	116750742	116750742	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:116750742G>A	ENST00000288466.7	+	3	318	c.219G>A	c.(217-219)gaG>gaA	p.E73E	ZNF618_ENST00000374126.5_Silent_p.E73E	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACATCCAGGAGGTGATCTGGC	0.642000													22	50					0	0	0.014323	0	0
DOCK2	1794	broad.mit.edu	37	5	169143299	169143299	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:169143299A>G	ENST00000256935.8	+	20	2104	c.2024A>G	c.(2023-2025)gAt>gGt	p.D675G	DOCK2_ENST00000520908.1_Missense_Mutation_p.D167G|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	675					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGTCTTTGATGCCTTGGTA	0.428000													24	343					0	0	0.018920	0	0
FBN3	84467	broad.mit.edu	37	19	8206690	8206690	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:8206690T>C	ENST00000600128.1	-	8	1190	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	FBN3_ENST00000270509.2_Missense_Mutation_p.Q259R|FBN3_ENST00000601739.1_Missense_Mutation_p.Q259R			Q75N90	FBN3_HUMAN	fibrillin 3	259	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTGCCTCcctggcacaggcc	0.622000													15	29					0	0	0.008871	0	0
SVEP1	79987	broad.mit.edu	37	9	113275213	113275213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:113275213G>T	ENST00000401783.2	-	5	1632	c.1296C>A	c.(1294-1296)taC>taA	p.Y432*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.Y432*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.Y409*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Y409*|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	432	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACCTCTGCAGTAGCTCTCTG	0.428000													63	116					2.32817e-41	3.82485e-41	0.014410	1	0
IGFBP4	3487	broad.mit.edu	37	17	38609369	38609369	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:38609369C>T	ENST00000269593.4	+	2	757	c.482C>T	c.(481-483)gCg>gTg	p.A161V	IGFBP4_ENST00000542955.1_Missense_Mutation_p.A61V	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	161					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTCAATGGGGCGCCCCGGGAG	0.612000													6	41					0	0	0.038147	0	0
SYNE2	23224	broad.mit.edu	37	14	64428310	64428310	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:64428310C>T	ENST00000358025.3	+	9	1085	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SYNE2_ENST00000554584.1_Silent_p.S285S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.S285S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	285	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCAGTATTCCAAAGATGCCC	0.393000													19	39					0	0	0.008871	0	0
SMG5	23381	broad.mit.edu	37	1	156237397	156237397	+	Silent	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:156237397C>G	ENST00000361813.5	-	10	1125	c.981G>C	c.(979-981)ctG>ctC	p.L327L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	327					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTGAGGAGGGCAGGTAGAAGA	0.552000													14	76					0	0	0.024245	0	0
INPP5D	3635	broad.mit.edu	37	2	233925269	233925269	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:233925269C>A	ENST00000359570.5	+	1	81	c.81C>A	c.(79-81)agC>agA	p.S27R	INPP5D_ENST00000538935.1_Missense_Mutation_p.S27R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	27	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGACGGGAGCTTCCTCGTGC	0.652000													16	43					8.60227e-14	1.19394e-13	0.028581	1	0
TPO	7173	broad.mit.edu	37	2	1480976	1480976	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:1480976C>A	ENST00000345913.4	+	8	1029	c.938C>A	c.(937-939)cCg>cAg	p.P313Q	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.P313Q|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.P313Q|TPO_ENST00000337415.3_Missense_Mutation_p.P313Q|TPO_ENST00000329066.4_Missense_Mutation_p.P313Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	313					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGGCCAACCCGCGGCAGCAG	0.697000													7	12					0.00198382	0.00215081	0.029380	1	0
PADI4	23569	broad.mit.edu	37	1	17634806	17634806	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:17634806G>T	ENST00000375448.4	+	1	115	c.89G>T	c.(88-90)tGc>tTc	p.C30F	PADI4_ENST00000375453.1_Missense_Mutation_p.C30F	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	30					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)	CTTGACATCTGCAGGTAAGAG	0.597000													14	45					1.3612e-06	1.62336e-06	0.024245	1	0
STK25	10494	broad.mit.edu	37	2	242437747	242437747	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:242437747T>A	ENST00000316586.4	-	9	1284	c.935A>T	c.(934-936)gAc>gTc	p.D312V	STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.D218V|STK25_ENST00000535007.1_Missense_Mutation_p.D218V|STK25_ENST00000405585.1_Missense_Mutation_p.D235V|STK25_ENST00000403346.3_Missense_Mutation_p.D312V|STK25_ENST00000401869.1_Missense_Mutation_p.D312V|STK25_ENST00000405883.3_Missense_Mutation_p.D235V	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	312					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTGCTCCCCGTCCTCCGCCTC	0.657000													9	22					0	0	0.008291	0	0
FNDC1	84624	broad.mit.edu	37	6	159653930	159653930	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:159653930G>T	ENST00000297267.9	+	11	2586	c.2386G>T	c.(2386-2388)Gac>Tac	p.D796Y	FNDC1_ENST00000340366.6_Missense_Mutation_p.D733Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	796						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGATAGGGAAGACGGCGGAAG	0.632000													7	11					1.12685e-05	1.31466e-05	0.004482	1	0
PIP4K2A	5305	broad.mit.edu	37	10	22898559	22898559	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:22898559G>C	ENST00000376573.4	-	2	460	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.L19V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	78	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTGTTAAAAAGGTGATTGTCC	0.348000													51	110					0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197404574	197404574	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:197404574G>T	ENST00000367397.1	+	5	2582	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	CRB1_ENST00000544212.1_Missense_Mutation_p.R675I|CRB1_ENST00000535699.1_Missense_Mutation_p.R1170I|CRB1_ENST00000367400.3_Missense_Mutation_p.R1194I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R1082I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1194	Laminin G-like 1.				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						TGCTCTGACAGAGTTGCAGCC	0.493000													27	53					1.16021e-09	1.48839e-09	0.034045	1	0
CCDC147	159686	broad.mit.edu	37	10	106121900	106121900	+	Silent	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:106121900G>C	ENST00000369704.3	+	3	545	c.411G>C	c.(409-411)ggG>ggC	p.G137G	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	137										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGGAGCAGGGGTCTGGACTGT	0.483000													10	70					0	0	0.008291	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960310	33960310	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:33960310C>T	ENST00000361328.3	+	8	2519	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	789					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAATTCACACGGGGGAAAAG	0.438000													11	390					0	0	0.008291	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672704	10672704	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr18:10672704C>T	ENST00000302079.6	-	50	7799	c.7800G>A	c.(7798-7800)ggG>ggA	p.G2600G	PIEZO2_ENST00000538948.1_Silent_p.G620G|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Silent_p.G2663G|PIEZO2_ENST00000285141.4_Silent_p.G455G|PIEZO2_ENST00000580640.1_Silent_p.G2688G			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663						integral to membrane	ion channel activity										CAGCCAGGAACCCCAGACTTG	0.463000													11	192					0	0	0.020292	0	0
ZNF608	57507	broad.mit.edu	37	5	123984261	123984261	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:123984261C>T	ENST00000306315.5	-	4	2251	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZNF608_ENST00000504926.1_Missense_Mutation_p.A179T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	606						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATTCAAGTGCCACATTACTC	0.537000													5	157					0	0	0.014758	0	0
KHNYN	23351	broad.mit.edu	37	14	24901122	24901122	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:24901122G>T	ENST00000251343.5	+	3	794	c.655G>T	c.(655-657)Gct>Tct	p.A219S	KHNYN_ENST00000556842.1_Missense_Mutation_p.A219S|KHNYN_ENST00000553935.1_Missense_Mutation_p.A219S			O15037	KHNYN_HUMAN	KH and NYN domain containing	219										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTTGCTGGGTGCTCAGTGCCA	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	92					8.69298e-16	1.27815e-15	0.027894	1	0
WNT2B	7482	broad.mit.edu	37	1	113059924	113059924	+	Missense_Mutation	SNP	G	G	A	rs143127439		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:113059924G>A	ENST00000369684.4	+	4	1348	c.863G>A	c.(862-864)cGc>cAc	p.R288H	WNT2B_ENST00000256640.5_Missense_Mutation_p.R196H|WNT2B_ENST00000369686.4_Missense_Mutation_p.R269H	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	288					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCGCAGCCCGCCAAGGCTAT	0.572000													9	48					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141625201	141625201	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:141625201G>A	ENST00000389484.3	-	27	5508	c.4537C>T	c.(4537-4539)Cca>Tca	p.P1513S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1513					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCAAATGGCTGTGCACTG	0.448000										TSP Lung(27;0.18)			11	389					0	0	0.010729	0	0
ZNF80	7634	broad.mit.edu	37	3	113955745	113955745	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:113955745G>T	ENST00000482457.2	-	1	680	c.177C>A	c.(175-177)aaC>aaA	p.N59K		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	59						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGCTGTTTTTGTTAAACACGC	0.478000													20	89					3.5997e-14	5.08379e-14	0.014323	1	0
GRM4	2914	broad.mit.edu	37	6	34008347	34008347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:34008347G>T	ENST00000374181.3	-	6	1516	c.1347C>A	c.(1345-1347)taC>taA	p.Y449*	GRM4_ENST00000455714.2_Nonsense_Mutation_p.Y309*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.Y449*|GRM4_ENST00000545715.1_Nonsense_Mutation_p.Y141*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Y316*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Y333*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.Y280*	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	449					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGTTTCGGATGTACTTAAGCA	0.662000													12	23					3.41278e-10	4.50375e-10	0.033300	1	0
HFE2	148738	broad.mit.edu	37	1	145416843	145416843	+	Silent	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:145416843C>G	ENST00000336751.5	+	4	1426	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L	HFE2_ENST00000497365.1_Silent_p.L170L|HFE2_ENST00000475797.1_Silent_p.L170L|HFE2_ENST00000357836.5_Silent_p.L283L	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	396					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTGCATCTCTTCCCCTCAG	0.522000													5	118					0	0	0.021553	0	0
FAM65C	140876	broad.mit.edu	37	20	49218697	49218697	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:49218697A>G	ENST00000327979.2	-	13	1970	c.1559T>C	c.(1558-1560)gTc>gCc	p.V520A	FAM65C_ENST00000535356.1_Missense_Mutation_p.V524A|FAM65C_ENST00000045083.2_Missense_Mutation_p.V520A			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	520										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACTCCAGGACCTCCTGCAG	0.697000													8	22					0	0	0.008291	0	0
AZI2	64343	broad.mit.edu	37	3	28368430	28368430	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:28368430T>G	ENST00000479665.1	-	7	1190	c.659A>C	c.(658-660)cAg>cCg	p.Q220P	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	220	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GTATGCATGCTGCATATTATC	0.313000													16	88					0	0	0.028581	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644051	20644051	+	RNA	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:20644051C>A	ENST00000428453.1	-	0	3408																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCTCGGAATCAGGGAAGTAG	0.597000													7	20					2.17888e-05	2.52374e-05	0.006214	1	0
ESPNP	284729	broad.mit.edu	37	1	17030482	17030482	+	RNA	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:17030482C>T	ENST00000492551.1	-	0	853					NR_026567.1																						GCTGGAGGAGCAGGAGTCGTA	0.622000													6	109					0	0	0.021553	0	0
EEF2K	29904	broad.mit.edu	37	16	22269910	22269910	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:22269910C>T	ENST00000263026.5	+	10	1599	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	375					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGCTCCGTCCCCTTTCAGAGA	0.572000													15	70					0	0	0.020292	0	0
ZNF354C	30832	broad.mit.edu	37	5	178503473	178503473	+	Missense_Mutation	SNP	G	G	C	rs138654012		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:178503473G>C	ENST00000315475.6	+	3	361	c.55G>C	c.(55-57)Gtg>Ctg	p.V19L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGATGTGGCCGTGTTCTTCAG	0.557000													37	100					0	0	0.023175	0	0
CARD11	84433	broad.mit.edu	37	7	2954996	2954996	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:2954996C>G	ENST00000396946.4	-	21	3117	c.2714G>C	c.(2713-2715)aGg>aCg	p.R905T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	905					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTCTCGGACCTGCTGACGAA	0.612000			Mis		DLBCL								8	22					0	0	0.006214	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350264	134350264	+	Silent	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:134350264A>G	ENST00000275230.5	-	2	854	c.699T>C	c.(697-699)gcT>gcC	p.A233A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	233						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAACCTTGCTAGCAGCTCCCT	0.443000													3	188					0	0	0.004672	0	0
CECR2	27443	broad.mit.edu	37	22	18018822	18018822	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:18018822G>C	ENST00000342247.5	+	12	1436	c.1359G>C	c.(1357-1359)agG>agC	p.R453S	CECR2_ENST00000262608.8_Intron|CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.4_Intron			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	0	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCAGGGAAGGAGTTTGTGCT	0.378000													12	68					0	0	0.016723	0	0
ATP2B4	493	broad.mit.edu	37	1	203678661	203678661	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:203678661T>C	ENST00000357681.5	+	11	2913	c.1790T>C	c.(1789-1791)aTc>aCc	p.I597T	ATP2B4_ENST00000367218.3_Missense_Mutation_p.I597T|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I597T|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I585T|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I597T	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	597					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGAGATCATCTTGCGCAAG	0.547000													7	57					0	0	0.038147	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375674	93375674	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:93375674C>A	ENST00000375765.3	-	2	824	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	146					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCCATGAAGGCACACTTCCAT	0.597000													34	82					1.06647e-15	1.56093e-15	0.017118	1	0
CDKL4	344387	broad.mit.edu	37	2	39406328	39406328	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:39406328C>A	ENST00000378803.1	-	8	926	c.927G>T	c.(925-927)caG>caT	p.Q309H	CDKL4_ENST00000395035.3_Splice_Site_p.Q309_splice	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCGGAAGTACCTGTTGGCGTC	0.398000													19	314					6.33239e-15	9.06235e-15	0.010504	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476787	27476787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:27476787C>A	ENST00000356183.4	-	33	5164	c.5149G>T	c.(5149-5151)Gaa>Taa	p.E1717*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1717*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1717						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGTGTTTTCCTGGGGGTTT	0.537000													14	55					2.98522e-18	4.51286e-18	0.024245	1	0
MXRA5	25878	broad.mit.edu	37	X	3242840	3242840	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:3242840G>C	ENST00000217939.6	-	5	1040	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	296						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTGTTCTTGCTCCTCCTCA	0.498000													30	156					0	0	0.037714	0	0
GPR15	2838	broad.mit.edu	37	3	98251773	98251773	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:98251773C>A	ENST00000284311.3	+	1	1031	c.896C>A	c.(895-897)cCt>cAt	p.P299H		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	299						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TGTGTCAACCCTTTCATTTAC	0.493000													85	116					3.24273e-39	5.27353e-39	0.014410	1	0
PTK2B	2185	broad.mit.edu	37	8	27296831	27296831	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:27296831G>T	ENST00000397501.1	+	25	2558	c.1750G>T	c.(1750-1752)Gtg>Ttg	p.V584L	PTK2B_ENST00000338238.4_Missense_Mutation_p.V584L|PTK2B_ENST00000397497.4_Missense_Mutation_p.V330L|PTK2B_ENST00000420218.2_Missense_Mutation_p.V584L|PTK2B_ENST00000517339.1_Missense_Mutation_p.V584L|PTK2B_ENST00000544172.1_Missense_Mutation_p.V584L|PTK2B_ENST00000346049.5_Missense_Mutation_p.V584L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	584	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAAAGCCTCTGTGACTCGTCT	0.488000													59	99					7.57603e-17	1.12939e-16	0.014410	1	0
NLRP3	114548	broad.mit.edu	37	1	247588134	247588134	+	Missense_Mutation	SNP	C	C	G	rs104895398	byFrequency	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:247588134C>G	ENST00000366497.2	+	4	2169	c.1389C>G	c.(1387-1389)tgC>tgG	p.C463W	NLRP3_ENST00000391828.3_Missense_Mutation_p.C463W|NLRP3_ENST00000391827.2_Missense_Mutation_p.C463W|NLRP3_ENST00000366496.2_Missense_Mutation_p.C463W|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.C463W|NLRP3_ENST00000336119.3_Missense_Mutation_p.C463W	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	463	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACGGCCTCTGCGCCCACCTCT	0.592000													9	56					0	0	0.010729	0	0
MT1JP	4498	broad.mit.edu	37	16	56670402	56670402	+	RNA	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:56670402C>A	ENST00000564564.1	+	0	728																											TGCAAATGCACCTCCTGCAAG	0.577000													5	32					0.0215528	0.0226058	0.021553	1	0
ALOX12	239	broad.mit.edu	37	17	6913618	6913618	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:6913618T>A	ENST00000251535.6	+	14	1921	c.1868T>A	c.(1867-1869)gTg>gAg	p.V623E	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	623	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCAAAGCTGTGCTAAACCAA	0.473000													51	102					0	0	0.014410	0	0
KIF4B	285643	broad.mit.edu	37	5	154396718	154396718	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:154396718G>A	ENST00000435029.4	+	1	3459	c.3299G>A	c.(3298-3300)gGg>gAg	p.G1100E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1100	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGCAGTGTGGGTGCAGGAAG	0.527000													12	73					0	0	0.010729	0	0
PSKH2	85481	broad.mit.edu	37	8	87076698	87076698	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:87076698G>C	ENST00000276616.2	-	2	422	c.348C>G	c.(346-348)agC>agG	p.S116R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	116	Protein kinase.		S -> I (in a lung adenocarcinoma sample; somatic mutation).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGTAACGATGGCTAACCCGCC	0.502000													21	120					0	0	0.014323	0	0
EPHB1	2047	broad.mit.edu	37	3	134851646	134851646	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:134851646G>T	ENST00000398015.3	+	5	1422	c.1052G>T	c.(1051-1053)cGg>cTg	p.R351L	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	351	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACAGGTGGGCGGGATGATGTG	0.587000													14	38					4.36969e-10	5.71968e-10	0.016723	1	0
UBA3	9039	broad.mit.edu	37	3	69127009	69127009	+	Silent	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:69127009T>A	ENST00000361055.4	-	3	177	c.123A>T	c.(121-123)gtA>gtT	p.V41V	UBA3_ENST00000540295.1_5'UTR|UBA3_ENST00000349511.4_Silent_p.V27V|UBA3_ENST00000415609.2_Silent_p.V27V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	41					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GGAACTTCTTTACATGGTTCC	0.453000													37	194					0	0	0.021022	0	0
HFE2	148738	broad.mit.edu	37	1	145416898	145416898	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:145416898C>G	ENST00000336751.5	+	4	1481	c.1243C>G	c.(1243-1245)Ctt>Gtt	p.L415V	HFE2_ENST00000497365.1_Missense_Mutation_p.L189V|HFE2_ENST00000475797.1_Missense_Mutation_p.L189V|HFE2_ENST00000357836.5_Missense_Mutation_p.L302V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	415					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTCCACTCCTTTCTGGGCT	0.498000													4	191					0	0	0.009096	0	0
GAB4	128954	broad.mit.edu	37	22	17445725	17445725	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:17445725T>C	ENST00000400588.1	-	8	1514	c.1407A>G	c.(1405-1407)caA>caG	p.Q469Q		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	469										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGATGGGGTGTTGGGAGGAGC	0.582000													15	52					0	0	0.033300	0	0
CDKL4	344387	broad.mit.edu	37	2	39406327	39406327	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:39406327C>A	ENST00000378803.1	-	8	927	c.928G>T	c.(928-930)Gta>Tta	p.V310L	CDKL4_ENST00000395035.3_Splice_Site	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	310						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AGCGGAAGTACCTGTTGGCGT	0.393000													19	313					6.33239e-15	9.06235e-15	0.010504	1	0
MATN4	8785	broad.mit.edu	37	20	43933171	43933171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:43933171C>A	ENST00000537548.1	-	4	584	c.340G>T	c.(340-342)Gga>Tga	p.G114*	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Nonsense_Mutation_p.G114*|MATN4_ENST00000353917.5_Nonsense_Mutation_p.G114*|MATN4_ENST00000342716.4_Nonsense_Mutation_p.G114*|MATN4_ENST00000360607.5_Nonsense_Mutation_p.G114*|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Nonsense_Mutation_p.G114*			O95460	MATN4_HUMAN	matrilin 4	114	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATTGCCAGTCCCGTCATGGTG	0.667000													14	32					6.31663e-08	7.70437e-08	0.024245	1	0
JKAMP	51528	broad.mit.edu	37	14	59965536	59965536	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:59965536G>T	ENST00000554271.1	+	5	1118	c.592G>T	c.(592-594)Ggg>Tgg	p.G198W	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.G184W|JKAMP_ENST00000425728.2_Missense_Mutation_p.G178W|JKAMP_ENST00000356057.5_Missense_Mutation_p.G192W			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	199					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATGTGGGTTAGGGAAATCTGA	0.378000													25	39					9.57634e-11	1.27949e-10	0.018920	1	0
CDH6	1004	broad.mit.edu	37	5	31267788	31267788	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:31267788G>T	ENST00000265071.2	+	2	473	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	CDH6_ENST00000514738.1_Missense_Mutation_p.D15Y	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	70	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACAGGATCCGATTATCAGTA	0.443000													25	130					9.90768e-06	1.1601e-05	0.024334	1	0
P4HA3	283208	broad.mit.edu	37	11	74000151	74000151	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:74000151T>A	ENST00000331597.4	-	5	787	c.742A>T	c.(742-744)Agc>Tgc	p.S248C	P4HA3_ENST00000427714.2_Missense_Mutation_p.S248C	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	248						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					cgagagaggctgagggcacac	0.403000													6	14					0	0	0.038147	0	0
SBDS	51119	broad.mit.edu	37	7	66456124	66456124	+	Splice_Site	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:66456124G>A	ENST00000246868.2	-	4	807	c.624_splice	c.e4+1	p.I208_splice		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	208					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACTCTTACGATTTCTAACT	0.338000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				4	27					0	0	0.014758	0	0
KCNB2	9312	broad.mit.edu	37	8	73848509	73848509	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:73848509C>T	ENST00000523207.1	+	3	1507	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	307					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCGAATCATGCGCATCCTCAG	0.512000													4	143					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113516138	113516138	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:113516138A>G	ENST00000297405.5	-	30	5208	c.4964T>C	c.(4963-4965)aTt>aCt	p.I1655T	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1551T|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1655T|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1615T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1655	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACTTCCAATCAGTGGGCT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			94	191					0	0	0.014410	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162297	33162297	+	RNA	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:33162297C>A	ENST00000510327.1	-	0	346																											GGGCATCTCTCGGGACAACTG	0.507000													22	67					2.12542e-12	2.89993e-12	0.030593	1	0
ZNF564	163050	broad.mit.edu	37	19	12637812	12637812	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:12637812G>A	ENST00000339282.7	-	4	1306	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGGCTTTCCCGCATTCCTTAC	0.418000													4	164					0	0	0.009096	0	0
C1orf54	79630	broad.mit.edu	37	1	150245265	150245265	+	Splice_Site	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:150245265G>T	ENST00000369102.1	+	3	815	c.46_splice	c.e3+1	p.L15_splice	C1orf54_ENST00000369098.3_Splice_Site_p.L15_splice|C1orf54_ENST00000369099.3_Splice_Site_p.L15_splice			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	15						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTTATCCTGGGTAAGTCCA	0.443000													32	176					3.76114e-14	5.28858e-14	0.019004	1	0
ACACA	31	broad.mit.edu	37	17	35687289	35687289	+	Silent	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:35687289A>G	ENST00000353139.5	-	3	643	c.162T>C	c.(160-162)tcT>tcC	p.S54S	ACACA_ENST00000588142.1_Silent_p.S17S|ACACA_ENST00000394406.2_Silent_p.S17S|ACACA_ENST00000416895.1_Silent_p.S17S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	17					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTATGAATCGAGAGTGCTGGT	0.468000													47	251					0	0	0.014410	0	0
ZNF229	7772	broad.mit.edu	37	19	44932705	44932705	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:44932705G>C	ENST00000291187.4	-	6	2555	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Q751E|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGAGCTCTGACTATAGCCC	0.512000													20	89					0	0	0.012319	0	0
RSPH1	89765	broad.mit.edu	37	21	43896062	43896062	+	Silent	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr21:43896062G>T	ENST00000291536.3	-	8	990	c.823C>A	c.(823-825)Cgg>Agg	p.R275R	RSPH1_ENST00000398352.3_Silent_p.R237R	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	275					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTCTCTTCCCGGAGGACGTCT	0.637000													17	58					3.99206e-14	5.58888e-14	0.043863	1	0
PHTF1	10745	broad.mit.edu	37	1	114267487	114267487	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:114267487C>A	ENST00000369604.1	-	7	1000	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	PHTF1_ENST00000357783.2_Missense_Mutation_p.G173W|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Missense_Mutation_p.G173W|PHTF1_ENST00000393357.2_Missense_Mutation_p.G173W|PHTF1_ENST00000369596.2_Missense_Mutation_p.G120W|PHTF1_ENST00000369600.1_Missense_Mutation_p.G120W			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	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)		TCTCGGCTCCCATCACCATTT	0.343000													3	41					0.00909568	0.00963424	0.009096	1	0
LRIT2	340745	broad.mit.edu	37	10	85982019	85982019	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:85982019C>A	ENST00000372113.4	-	3	1315	c.1310G>T	c.(1309-1311)gGc>gTc	p.G437V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G447V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	437	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGGAGGCTGGCCCTCTAGGCT	0.557000													25	94					2.40579e-17	3.60309e-17	0.025465	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79051803	79051803	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:79051803C>A	ENST00000388820.4	-	24	5231	c.5021G>T	c.(5020-5022)gGc>gTc	p.G1674V		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1674					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGGGGGCGCCGTGGCTGGG	0.716000													2	1					0.0016	0.00174054	0.004672	1	0
GNAZ	2781	broad.mit.edu	37	22	23438214	23438214	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:23438214C>A	ENST00000248996.4	+	2	998	c.332C>A	c.(331-333)aCg>aAg	p.T111K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTTGCGCTGACGGGCCCCGCT	0.687000													14	33					2.23348e-06	2.63437e-06	0.028581	1	0
LRIG3	121227	broad.mit.edu	37	12	59277358	59277358	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:59277358G>A	ENST00000320743.3	-	11	1546	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	LRIG3_ENST00000379141.4_Silent_p.N360N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	420						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACATGATTGCGTTGTCACTCA	0.418000			T	ROS1	NSCLC								45	119					0	0	0.014410	0	0
WDR78	79819	broad.mit.edu	37	1	67370902	67370902	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:67370902G>A	ENST00000371026.3	-	2	382	c.327C>T	c.(325-327)ccC>ccT	p.P109P	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000488333.1_Silent_p.P37P|WDR78_ENST00000371022.3_Silent_p.P109P|WDR78_ENST00000371023.3_Silent_p.P109P	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	109										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTTTATATTGGGATTTGGTT	0.338000													69	442					0	0	0.014410	0	0
SHPRH	257218	broad.mit.edu	37	6	146234621	146234621	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:146234621C>T	ENST00000367503.3	-	24	4729	c.4331G>A	c.(4330-4332)gGa>gAa	p.G1444E	SHPRH_ENST00000438092.2_Missense_Mutation_p.G1444E|SHPRH_ENST00000275233.7_Missense_Mutation_p.G1440E|SHPRH_ENST00000367505.2_Missense_Mutation_p.G1440E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1440					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TACCTGTTTTCCTAGCTGTCG	0.328000													8	148					0	0	0.010729	0	0
EPX	8288	broad.mit.edu	37	17	56274428	56274428	+	Silent	SNP	C	C	T	rs150544366	byFrequency	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:56274428C>T	ENST00000225371.5	+	7	1040	c.930C>T	c.(928-930)gaC>gaT	p.D310D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	310					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCTTTGTGGACGCCAGCATGG	0.597000													66	141					0	0	0.014410	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119805526	119805526	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:119805526G>A	ENST00000355624.3	-	1	588	c.149C>T	c.(148-150)tCt>tTt	p.S50F	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.S50F	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	50	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTCAGCTACAGAGGTGGAGTA	0.458000													21	174					0	0	0.008871	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589765	140589765	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:140589765C>A	ENST00000239450.2	+	1	1475	c.1286C>A	c.(1285-1287)cCc>cAc	p.P429H	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P92H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGGGACCCCCAGGCTAAAA	0.547000													33	73					3.90053e-15	5.65752e-15	0.012213	1	0
TTYH2	94015	broad.mit.edu	37	17	72256330	72256330	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:72256330G>A	ENST00000441391.2	+	8	1836	c.624G>A	c.(622-624)ggG>ggA	p.G208G	CTD-2514K5.4_ENST00000583018.1_RNA|TTYH2_ENST00000269346.4_Silent_p.G529G|TTYH2_ENST00000529107.1_Silent_p.G508G	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	529						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGCACTACGGGAATCAGTTTC	0.493000													48	173					0	0	0.014410	0	0
GPR114	221188	broad.mit.edu	37	16	57597789	57597789	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:57597789C>A	ENST00000340339.4	+	5	850	c.327C>A	c.(325-327)caC>caA	p.H109Q	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.H109Q	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	109					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGGTCAGCACGCCATGCAGT	0.622000													10	36					0.000673444	0.000747755	0.008291	1	0
FAM129A	116496	broad.mit.edu	37	1	184764494	184764494	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:184764494C>T	ENST00000367511.3	-	14	2597	c.2404G>A	c.(2404-2406)Ggg>Agg	p.G802R	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	802	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCGGTGAGCCCTCCACTGGCT	0.677000													11	203					0	0	0.010504	0	0
ABCA4	24	broad.mit.edu	37	1	94471034	94471034	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:94471034G>A	ENST00000370225.3	-	44	6196	c.6110C>T	c.(6109-6111)gCc>gTc	p.A2037V	ABCA4_ENST00000535881.1_Missense_Mutation_p.A156V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A307V|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2037	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGAAGCCGGGCATAAAGGTA	0.418000													5	139					0	0	0.021553	0	0
FGA	2243	broad.mit.edu	37	4	155507348	155507348	+	Silent	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:155507348G>C	ENST00000302053.3	-	5	1311	c.1233C>G	c.(1231-1233)ggC>ggG	p.G411G	FGA_ENST00000403106.3_Silent_p.G411G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	411					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCAAATGTGCCCCAGTCTG	0.493000													54	276					0	0	0.014410	0	0
KCNH2	3757	broad.mit.edu	37	7	150648009	150648009	+	Splice_Site	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:150648009C>A	ENST00000392968.2	-	6	2977	c.1857_splice	c.e6+1	p.A619_splice	KCNH2_ENST00000330883.4_Splice_Site_p.A375_splice|KCNH2_ENST00000262186.5_Splice_Site_p.A715_splice|KCNH2_ENST00000430723.3_Splice_Site_p.A715_splice			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	715					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGGCCTCACCGCGTTCATGT	0.627000													6	29					1.58986e-06	1.88906e-06	0.008291	1	0
IGF2	3481	broad.mit.edu	37	11	2156601	2156601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:2156601G>T	ENST00000416167.2	-	2	1319	c.153C>A	c.(151-153)taC>taA	p.Y51*	IGF2_ENST00000381392.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381395.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381389.1_Nonsense_Mutation_p.Y51*|IGF2_ENST00000418738.2_Nonsense_Mutation_p.Y51*|IGF2_ENST00000337883.6_Nonsense_Mutation_p.Y51*|IGF2_ENST00000434045.2_Nonsense_Mutation_p.Y107*|IGF2_ENST00000300632.5_Nonsense_Mutation_p.Y51*|IGF2_ENST00000381406.4_Nonsense_Mutation_p.Y51*			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	51	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACTTACTGAAGTAGAAGCCGC	0.637000													2	1					0.00909568	0.00963424	0.009096	1	0
SIGMAR1	10280	broad.mit.edu	37	9	34635808	34635808	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:34635808C>T	ENST00000378892.1	-	3	653	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	SIGMAR1_ENST00000277010.4_Missense_Mutation_p.G165R|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.G134R|SIGMAR1_ENST00000461426.1_5'UTR			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	GTGTTTGGCCCCCACTCCACA	0.637000													19	31					0	0	0.037714	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648417	62648417	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:62648417G>A	ENST00000337910.5	-	6	1346	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.P337S	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	337	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATCCTAGGCGGGCCCTCCTCC	0.577000													48	185					0	0	0.014410	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596841	54596841	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:54596841A>C	ENST00000474759.1	+	6	607	c.559A>C	c.(559-561)Aat>Cat	p.N187H	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N187H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N187H|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N93H	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	187						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCAATTGTCAATGGGGTTTA	0.413000													8	61					0	0	0.038147	0	0
DNAH3	55567	broad.mit.edu	37	16	20996463	20996463	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:20996463G>A	ENST00000261383.3	-	48	7600	c.7601C>T	c.(7600-7602)gCc>gTc	p.A2534V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2534	AAA 4 (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)		TTGGGTCCTGGCTGCAGTCTG	0.478000													29	38					0	0	0.027356	0	0
TEKT1	83659	broad.mit.edu	37	17	6703405	6703405	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:6703405G>A	ENST00000338694.2	-	8	1327	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	TEKT1_ENST00000535086.1_Missense_Mutation_p.R254W	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	400					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCCCATCCCGAAGTGGGATG	0.512000													9	394					0	0	0.004482	0	0
ZNF318	24149	broad.mit.edu	37	6	43307716	43307716	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:43307716C>T	ENST00000361428.2	-	10	4097	c.4020G>A	c.(4018-4020)gtG>gtA	p.V1340V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1340					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGGAAGTTGTCACAACAGGCA	0.488000													7	248					0	0	0.029380	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178771087	178771087	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:178771087G>A	ENST00000251582.7	-	2	316	c.215C>T	c.(214-216)tCc>tTc	p.S72F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S72F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	72					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACCACGTGGGACACCAAGCG	0.731000													5	8					0	0	0.038147	0	0
IARS2	55699	broad.mit.edu	37	1	220298648	220298648	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:220298648T>C	ENST00000366922.1	+	13	1825	c.1494T>C	c.(1492-1494)ccT>ccC	p.P498P	IARS2_ENST00000302637.5_Silent_p.P570P			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	570					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTCTTCCCCCTGAACAACTTC	0.388000													4	158					0	0	0.014758	0	0
WHSC1	7468	broad.mit.edu	37	4	1955058	1955058	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:1955058C>G	ENST00000382895.3	+	14	2576	c.2145C>G	c.(2143-2145)caC>caG	p.H715Q	WHSC1_ENST00000508803.1_Missense_Mutation_p.H715Q|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.H63Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.H715Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.H715Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	715					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TAGGGATTCACTCATGTTTCG	0.403000			T	IGH@	MM								27	150					0	0	0.024334	0	0
GPR32	2854	broad.mit.edu	37	19	51274220	51274220	+	Silent	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:51274220G>T	ENST00000270590.4	+	1	500	c.363G>T	c.(361-363)gtG>gtT	p.V121V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCACCTTTGTGTTCCTCAGCT	0.532000													16	114					4.7546e-09	5.9804e-09	0.028581	1	0
APOA4	337	broad.mit.edu	37	11	116691952	116691952	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:116691952C>A	ENST00000357780.3	-	3	936	c.822G>T	c.(820-822)gtG>gtT	p.V274V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTTGCCACGCACGTCCTCGG	0.667000													19	25					1.96292e-10	2.61182e-10	0.010504	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361674	105361674	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:105361674C>T	ENST00000297581.2	+	2	943	c.894C>T	c.(892-894)ctC>ctT	p.L298L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	298					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGTTTTTCCTCCCCATACTTA	0.478000													16	816					0	0	0.038395	0	0
PACRGL	133015	broad.mit.edu	37	4	20706146	20706146	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:20706146C>A	ENST00000360916.5	+	2	433	c.42C>A	c.(40-42)aaC>aaA	p.N14K	PACRGL_ENST00000295290.8_Missense_Mutation_p.N14K|PACRGL_ENST00000502374.1_Missense_Mutation_p.N14K|PACRGL_ENST00000538990.1_Missense_Mutation_p.N14K|PACRGL_ENST00000513459.1_Missense_Mutation_p.N14K|PACRGL_ENST00000502938.1_Missense_Mutation_p.N14K|PACRGL_ENST00000444671.2_Missense_Mutation_p.N14K|PACRGL_ENST00000503585.1_Missense_Mutation_p.N14K|PACRGL_ENST00000507634.1_Missense_Mutation_p.N14K	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	14							binding			endometrium(2)|lung(7)|prostate(1)	10						AGTTGAAAAACAGAGCAACAG	0.388000													4	146					0.014758	0.0155297	0.014758	1	0
PREB	10113	broad.mit.edu	37	2	27356508	27356508	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:27356508T>C	ENST00000260643.2	-	2	470	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	PREB_ENST00000406567.3_Missense_Mutation_p.M73V|PREB_ENST00000416802.1_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	73					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAAGTTCATGGTGGCCCGT	0.592000											OREG0014515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	0.033300	0	0
KMT2C	58508	broad.mit.edu	37	7	151962184	151962184	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:151962184C>T	ENST00000355193.2	-	8	1341	c.1123G>A	c.(1123-1125)Gtt>Att	p.V375I	KMT2C_ENST00000262189.6_Missense_Mutation_p.V375I					lysine (K)-specific methyltransferase 2C																		AATGGAGTAACCGCTATATCC	0.448000													28	1760					0	0	0.008291	0	0
ITIH5	80760	broad.mit.edu	37	10	7611659	7611659	+	Silent	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:7611659G>T	ENST00000256861.6	-	12	2199	c.2121C>A	c.(2119-2121)ctC>ctA	p.L707L	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.L493L|ITIH5_ENST00000446830.2_Silent_p.L489L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	707					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGACCAGCCTGAGGATGTCCC	0.562000													6	35					2.7689e-08	3.4692e-08	0.029380	1	0
MFAP3L	9848	broad.mit.edu	37	4	170913311	170913311	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:170913311C>A	ENST00000361618.3	-	3	755	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.G47C	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	150						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TAGTAGACACCCATGTCTCCA	0.517000													63	134					1.84395e-34	2.96876e-34	0.014410	1	0
DBT	1629	broad.mit.edu	37	1	100672088	100672088	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:100672088C>T	ENST00000370132.3	-	9	1135	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	374					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GGAGGCGGTTCAGTTCAGTGG	0.428000													18	303					0	0	0.010504	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316843	40316843	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:40316843C>A	ENST00000593685.1	-	10	1963	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	DYRK1B_ENST00000348817.3_Missense_Mutation_p.D471Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D499Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D459Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D471Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	499	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATCTCACAGTCTGTGATAGGG	0.622000													16	122					4.96729e-08	6.08163e-08	0.008871	1	0
USP15	9958	broad.mit.edu	37	12	62795017	62795017	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:62795017G>T	ENST00000280377.5	+	21	2783	c.2725G>T	c.(2725-2727)Gac>Tac	p.D909Y	USP15_ENST00000393654.3_Missense_Mutation_p.D884Y|USP15_ENST00000353364.3_Missense_Mutation_p.D880Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	909					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTATTTTGATGACAGTAGTGT	0.328000													19	54					2.21704e-12	3.01217e-12	0.016522	1	0
DSG4	147409	broad.mit.edu	37	18	28980983	28980983	+	Splice_Site	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr18:28980983G>A	ENST00000359747.4	+	10	1446	c.1417_splice	c.e10+1	p.D473_splice	DSG4_ENST00000308128.4_Splice_Site_p.D473_splice|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	473	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGCTATAGATGGTAAGAAAAT	0.264000													22	42					0	0	0.018920	0	0
MRGPRF	116535	broad.mit.edu	37	11	68777385	68777385	+	Translation_Start_Site	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:68777385G>A	ENST00000309099.6	-	0	367				MRGPRF_ENST00000320913.6_De_novo_Start_OutOfFrame|MRGPRF_ENST00000441623.1_De_novo_Start_OutOfFrame	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F							integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCTGGCGCGTCTGGGCCCC	0.662000													12	44					0	0	0.010729	0	0
NUTM1	256646	broad.mit.edu	37	15	34640188	34640188	+	Missense_Mutation	SNP	C	C	A	rs138920290	by1000genomes	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:34640188C>A	ENST00000537011.1	+	3	501	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	NUTM1_ENST00000333756.4_Missense_Mutation_p.P12Q|NUTM1_ENST00000438749.3_Missense_Mutation_p.P30Q					NUT midline carcinoma, family member 1																		TTGCCGGGACCGGATATGAGC	0.502000													34	68					5.43694e-19	8.25799e-19	0.023175	1	0
TGM4	7047	broad.mit.edu	37	3	44929222	44929222	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:44929222G>C	ENST00000296125.4	+	3	303	c.235G>C	c.(235-237)Gac>Cac	p.D79H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	79					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGTGGTGCTCGACCCGAGGAC	0.607000													29	72					0	0	0.012213	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736248	56736248	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:56736248C>A	ENST00000587340.1	-	4	863	c.168G>T	c.(166-168)tcG>tcT	p.S56S	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Silent_p.S56S|ZSCAN5A_ENST00000592355.1_Silent_p.S56S|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	56	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGATGGGGTCCGACTCCTTCG	0.552000													5	41					0.00621372	0.00666939	0.006214	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516399	140516399	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:140516399G>T	ENST00000231134.5	+	1	1600	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTCCGAGAGAACAACAGCC	0.617000													62	141					3.37205e-40	5.51168e-40	0.014410	1	0
RNF183	138065	broad.mit.edu	37	9	116060426	116060426	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:116060426G>A	ENST00000478815.1	-	1	1619	c.39C>T	c.(37-39)tgC>tgT	p.C13C	RNF183_ENST00000297894.5_Silent_p.C13C|RNF183_ENST00000416588.2_Silent_p.C13C|RNF183_ENST00000441031.3_Silent_p.C13C			Q96D59	RN183_HUMAN	ring finger protein 183	13						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGCAGACGGGGCACTCAGCCT	0.612000													4	113					0	0	0.009096	0	0
KALRN	8997	broad.mit.edu	37	3	124397099	124397099	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:124397099A>T	ENST00000360013.3	+	50	7383	c.7256A>T	c.(7255-7257)aAa>aTa	p.K2419I	KALRN_ENST00000428018.2_Missense_Mutation_p.K690I|KALRN_ENST00000291478.4_Missense_Mutation_p.K722I|KALRN_ENST00000462213.1_Missense_Mutation_p.K36I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2418					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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						AACACGGGTAAAAATGAAGCC	0.478000													50	93					0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152539283	152539283	+	Splice_Site	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:152539283C>A	ENST00000397345.3	-	29	3038	c.2835_splice	c.e29-1	p.V946_splice	NEB_ENST00000409198.1_Splice_Site_p.V946_splice|NEB_ENST00000172853.10_Splice_Site_p.V946_splice|NEB_ENST00000603639.1_Splice_Site_p.V946_splice|NEB_ENST00000427231.2_Splice_Site_p.V946_splice|NEB_ENST00000604864.1_Splice_Site_p.V946_splice	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	946					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTATTCAACCTAAAACACC	0.388000													12	53					0.00136819	0.00149342	0.013537	1	0
NDUFS3	4722	broad.mit.edu	37	11	47603973	47603973	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:47603973G>A	ENST00000263774.4	+	6	662	c.580G>A	c.(580-582)Gag>Aag	p.E194K	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	194					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	TTATGGCTTCGAGGGACATCC	0.502000													7	354					0	0	0.008291	0	0
TDO2	6999	broad.mit.edu	37	4	156828908	156828908	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:156828908G>T	ENST00000536354.2	+	4	331	c.267G>T	c.(265-267)gaG>gaT	p.E89D		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	89					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TCCTCTGGGAGTTGGATTCTG	0.338000													24	214					3.96558e-24	6.29023e-24	0.024334	1	0
VKORC1	79001	broad.mit.edu	37	16	31106861	31106861	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:31106861C>T	ENST00000498155.1	-	1	440	c.119G>A	c.(118-120)gGa>gAa	p.G40E				Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTCCCATCCTCCCGGGTCCTG	0.572000													15	30					0	0	0.043863	0	0
FAT1	2195	broad.mit.edu	37	4	187531125	187531125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:187531125C>A	ENST00000441802.2	-	15	10107	c.9898G>T	c.(9898-9900)Gag>Tag	p.E3300*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3300	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGTAATACTCATGAGAGCTC	0.438000										HNSCC(5;0.00058)			16	108					2.94398e-08	3.66009e-08	0.043863	1	0
PKD1L2	114780	broad.mit.edu	37	16	81222569	81222569	+	Missense_Mutation	SNP	G	G	T	rs28534622		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:81222569G>T	ENST00000599697.1	-	10	1705	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	569	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATATGGACCAGGTTGGATGTA	0.498000													20	96					1.33834e-09	1.70334e-09	0.043863	1	0
AES	166	broad.mit.edu	37	19	3061240	3061240	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:3061240G>A	ENST00000221561.8	-	2	423	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	AES_ENST00000586839.1_5'UTR|AES_ENST00000327141.4_Missense_Mutation_p.P15S|AES_ENST00000592330.1_5'UTR	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	15	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGCTGGGGTAGGTGCGAG	0.662000													6	52					0	0	0.038147	0	0
METRNL	284207	broad.mit.edu	37	17	81042956	81042956	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:81042956A>T	ENST00000571814.1	+	1	1008	c.67A>T	c.(67-69)Acc>Tcc	p.T23S	METRNL_ENST00000570778.1_Missense_Mutation_p.T23S|METRNL_ENST00000320095.7_Missense_Mutation_p.T105S			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	105						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCGGCACCTGACCGTGTGCAT	0.597000													3	27					0	0	0.021553	0	0
DPP4	1803	broad.mit.edu	37	2	162902089	162902089	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:162902089T>C	ENST00000360534.3	-	5	879	c.319A>G	c.(319-321)Ata>Gta	p.I107V		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	107					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.I107V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCAGGAGATATTGAATAATCA	0.318000													85	269					0	0	0.014410	0	0
STK31	56164	broad.mit.edu	37	7	23826248	23826248	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:23826248G>T	ENST00000354639.3	+	19	2791	c.2327G>T	c.(2326-2328)tGt>tTt	p.C776F	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.C776F|STK31_ENST00000433467.2_Missense_Mutation_p.C799F|STK31_ENST00000355870.3_Missense_Mutation_p.C799F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	799	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGTTTTTATGTAAGGTAAAG	0.383000													30	125					8.88839e-20	1.36289e-19	0.045705	1	0
FAM83B	222584	broad.mit.edu	37	6	54805296	54805296	+	Silent	SNP	G	G	T	rs149380682		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:54805296G>T	ENST00000306858.7	+	5	1643	c.1527G>T	c.(1525-1527)ccG>ccT	p.P509P		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	509										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)					AAGCTACACCGGACTCAAATG	0.418000													50	204					5.13769e-22	8.06993e-22	0.014410	1	0
AHNAK2	113146	broad.mit.edu	37	14	105406157	105406157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:105406157C>A	ENST00000333244.5	-	7	15750	c.15631G>T	c.(15631-15633)Gga>Tga	p.G5211*	AHNAK2_ENST00000557457.1_Nonsense_Mutation_p.G209*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5211						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTTTCCAGCCCCGCCT	0.562000													4	40					8.12818e-05	9.21576e-05	0.029380	1	0
IGLC7	28834	broad.mit.edu	37	22	23265034	23265034	+	RNA	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:23265034G>T	ENST00000390331.1	+	0	269																											GCCGGGTCACGCATGAAGGGA	0.617000													7	31					1.06961e-07	1.28995e-07	0.038147	1	0
TEX15	56154	broad.mit.edu	37	8	30700236	30700236	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:30700236G>T	ENST00000256246.2	-	1	6372	c.6298C>A	c.(6298-6300)Cct>Act	p.P2100T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2100										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACCAGCTCAGGAAGAAGTGAC	0.368000													21	46					3.5997e-14	5.08379e-14	0.014323	1	0
CELSR3	1951	broad.mit.edu	37	3	48689361	48689361	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:48689361G>C	ENST00000544264.1	-	12	6152	c.5872C>G	c.(5872-5874)Cac>Gac	p.H1958D	CELSR3_ENST00000164024.4_Missense_Mutation_p.H1958D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1958	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTCTGCGTGAGGTGGGCAG	0.667000													13	22					0	0	0.013537	0	0
OR52R1	119695	broad.mit.edu	37	11	4824914	4824914	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:4824914A>T	ENST00000380382.1	-	1	933	c.934T>A	c.(934-936)Tca>Aca	p.S312T	OR52R1_ENST00000356069.2_Missense_Mutation_p.S233T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTCACCTGAGGGCAACTGA	0.478000													33	56					0	0	0.012213	0	0
ADGRG1	9289	broad.mit.edu	37	16	57697431	57697431	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:57697431G>T	ENST00000562631.1	+	14	2533	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	GPR56_ENST00000379696.3_Missense_Mutation_p.K673N|GPR56_ENST00000538815.1_Missense_Mutation_p.K667N|GPR56_ENST00000567835.1_Missense_Mutation_p.K673N|GPR56_ENST00000544297.1_Missense_Mutation_p.K492N|GPR56_ENST00000562558.1_Missense_Mutation_p.K667N|GPR56_ENST00000388812.4_Missense_Mutation_p.K673N|GPR56_ENST00000456916.1_Missense_Mutation_p.K673N|GPR56_ENST00000568909.1_Missense_Mutation_p.K673N|GPR56_ENST00000568908.1_Missense_Mutation_p.K667N|GPR56_ENST00000379694.4_Missense_Mutation_p.K503N|GPR56_ENST00000540164.2_Missense_Mutation_p.K667N|GPR56_ENST00000388813.5_Missense_Mutation_p.K667N			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	673					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCCCTCTGAAGAGCAACTCAG	0.652000													8	65					0.000157383	0.000176576	0.038147	1	0
KIAA1429	25962	broad.mit.edu	37	8	95543256	95543256	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:95543256C>A	ENST00000297591.5	-	6	617	c.542G>T	c.(541-543)gGa>gTa	p.G181V	KIAA1429_ENST00000421249.2_Missense_Mutation_p.G181V|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G181V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	181	Pro-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTTCTTGGTCCCCTTGGCTG	0.468000													45	93					3.39706e-21	5.30996e-21	0.014410	1	0
FAM19A2	338811	broad.mit.edu	37	12	62104158	62104158	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:62104158G>A	ENST00000551449.1	-	3	325	c.147C>T	c.(145-147)ggC>ggT	p.G49G	FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR|FAM19A2_ENST00000551619.1_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AATGTCATCAGCCTTGAGGAT	0.368000													43	302					0	0	0.045515	0	0
ZNF333	84449	broad.mit.edu	37	19	14829929	14829929	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:14829929G>A	ENST00000292530.6	+	12	1881	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	ZNF333_ENST00000536363.1_Missense_Mutation_p.R488Q|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GAATGCGGGCGAGCCTTTGGT	0.527000													5	352					0	0	0.014758	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:26212996C>A	ENST00000379034.1	+	2	1182	c.1033C>A	c.(1033-1035)Cgg>Agg	p.R345R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	345	MAGE.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498000													44	136					5.22555e-25	8.32984e-25	0.014410	1	0
DEPDC1	55635	broad.mit.edu	37	1	68947177	68947177	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:68947177C>G	ENST00000456315.2	-	9	1995	c.1881G>C	c.(1879-1881)atG>atC	p.M627I	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.M343I	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	627	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CATTTTGACTCATTCGGGAAA	0.383000													11	87					0	0	0.010729	0	0
SFI1	9814	broad.mit.edu	37	22	31979927	31979927	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:31979927C>T	ENST00000432498.1	+	12	1615	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	SFI1_ENST00000540643.1_Missense_Mutation_p.P384S|SFI1_ENST00000443326.1_Missense_Mutation_p.P357S|SFI1_ENST00000443011.1_Missense_Mutation_p.P286S|SFI1_ENST00000414585.1_Missense_Mutation_p.P286S|SFI1_ENST00000400288.2_Missense_Mutation_p.P439S|SFI1_ENST00000400289.1_Missense_Mutation_p.P357S	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	439					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGAGCTGCTCCCCTTACTGCA	0.512000													61	232					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11049511	11049511	+	RNA	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr21:11049511C>T	ENST00000470054.1	-	0	597									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGGAGTAACCGCTGTATCC	0.453000													18	444					0	0	0.008871	0	0
APOB	338	broad.mit.edu	37	2	21263872	21263872	+	Silent	SNP	A	A	C	rs150182638		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:21263872A>C	ENST00000233242.1	-	4	448	c.321T>G	c.(319-321)ccT>ccG	p.P107P	APOB_ENST00000399256.4_Silent_p.P107P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	107	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTGCCCTCAGGGTTGAAGC	0.517000													5	33					0	0	0.014758	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23385654	23385654	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:23385654T>A	ENST00000258729.3	-	8	1202	c.846A>T	c.(844-846)ttA>ttT	p.L282F		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	282	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TATTATGAGCTAAAATCTTCA	0.338000													49	174					0	0	0.014410	0	0
CFH	3075	broad.mit.edu	37	1	196709747	196709747	+	Splice_Site	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:196709747A>T	ENST00000367429.4	+	18	3022		c.e18-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTTTTTTTTAGGCCTTCCTT	0.303000													7	209					0	0	0.013537	0	0
BZW2	28969	broad.mit.edu	37	7	16737692	16737692	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:16737692C>T	ENST00000433922.2	+	10	1167	c.989C>T	c.(988-990)gCc>gTc	p.A330V	BZW2_ENST00000405202.1_Missense_Mutation_p.A254V|BZW2_ENST00000407633.1_Missense_Mutation_p.A136V|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.A330V|AC073333.8_ENST00000418907.1_RNA	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	330	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCCCTGCTGGCCGTGTTCAGC	0.498000													5	172					0	0	0.014758	0	0
C5orf42	65250	broad.mit.edu	37	5	37183248	37183248	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:37183248C>T	ENST00000274258.7	-	26	5265	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	C5orf42_ENST00000425232.2_Missense_Mutation_p.G1679S|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1679S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1679										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTTTTAAACCAAATAATCCA	0.333000													21	77					0	0	0.008871	0	0
IL1RN	3557	broad.mit.edu	37	2	113890416	113890416	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:113890416G>A	ENST00000361779.3	+	6	745	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	IL1RN_ENST00000354115.2_Missense_Mutation_p.V150I|IL1RN_ENST00000259206.5_Missense_Mutation_p.V171I|IL1RN_ENST00000409930.3_Missense_Mutation_p.V168I|IL1RN_ENST00000409052.1_Missense_Mutation_p.V134I	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	168					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AGGCGTCATGGTCACCAAATT	0.592000									Lichen Sclerosis et Atrophicus, Familial Clustering of				54	140					0	0	0.014410	0	0
GFI1B	8328	broad.mit.edu	37	9	135863743	135863743	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:135863743A>T	ENST00000339463.3	+	8	1217	c.398A>T	c.(397-399)cAc>cTc	p.H133L	GFI1B_ENST00000372122.1_Missense_Mutation_p.H133L|GFI1B_ENST00000450530.1_Missense_Mutation_p.H133L|GFI1B_ENST00000534944.1_Missense_Mutation_p.H133L|GFI1B_ENST00000372124.1_Missense_Mutation_p.H133L|GFI1B_ENST00000372123.1_Missense_Mutation_p.H133L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	133	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCCTGGAGCACTCCGTCAGC	0.617000													20	25					0	0	0.030593	0	0
KCNB1	3745	broad.mit.edu	37	20	47991418	47991418	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:47991418G>A	ENST00000371741.4	-	2	845	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	227					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAGCTGGGGGTTGTCTGTG	0.572000													20	55					0	0	0.012319	0	0
RIMS2	9699	broad.mit.edu	37	8	104897887	104897887	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:104897887C>T	ENST00000507740.1	+	2	720	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	RIMS2_ENST00000262231.10_Missense_Mutation_p.R162W|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.R132W|RIMS2_ENST00000406091.3_Missense_Mutation_p.R354W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	385	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAACAAATGCGGATCCATGC	0.478000										HNSCC(12;0.0054)			5	113					0	0	0.021553	0	0
TCOF1	6949	broad.mit.edu	37	5	149755685	149755685	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:149755685C>T	ENST00000451292.1	+	13	2042	c.1934C>T	c.(1933-1935)cCa>cTa	p.P645L	TCOF1_ENST00000439160.2_Missense_Mutation_p.P645L|TCOF1_ENST00000377797.3_Missense_Mutation_p.P645L|TCOF1_ENST00000445265.2_Missense_Mutation_p.P568L|TCOF1_ENST00000513346.1_Missense_Mutation_p.P645L|TCOF1_ENST00000323668.7_Missense_Mutation_p.P568L|TCOF1_ENST00000504761.2_Missense_Mutation_p.P645L|TCOF1_ENST00000394269.3_Missense_Mutation_p.P645L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	645					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCCTGCCCAAAGAAAACC	0.562000													6	317					0	0	0.029380	0	0
MYO7B	4648	broad.mit.edu	37	2	128331592	128331592	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:128331592G>A	ENST00000389524.4	+	7	743	c.690G>A	c.(688-690)gcG>gcA	p.A230A	MYO7B_ENST00000428314.1_Silent_p.A230A|MYO7B_ENST00000409816.2_Silent_p.A230A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGAGGGCGCGCGCATCGAGC	0.582000													16	153					0	0	0.043863	0	0
IGLJ7	28827	broad.mit.edu	37	22	23263607	23263607	+	RNA	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:23263607G>A	ENST00000390330.2	+	0	46																											GACCGCCCTCGGTAAGTCTCC	0.582000													4	33					0	0	0.009096	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990846	43990846	+	Missense_Mutation	SNP	G	G	A	rs142460452		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:43990846G>A	ENST00000413453.2	+	8	1543	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CKMT1A_ENST00000434505.1_Missense_Mutation_p.R340H|STRC_ENST00000541030.1_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	340	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAGGATAGCCGCTTCCCAAAG	0.517000													46	69					0	0	0.014410	0	0
BTK	695	broad.mit.edu	37	X	100617575	100617575	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:100617575C>T	ENST00000308731.7	-	6	657	c.494G>A	c.(493-495)tGc>tAc	p.C165Y	BTK_ENST00000372880.1_Missense_Mutation_p.C165Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	165					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAAATTTGGCAGCCCATAGC	0.453000									Agammaglobulinemia, X-linked				6	286					0	0	0.021553	0	0
PPEF2	5470	broad.mit.edu	37	4	76808028	76808028	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:76808028C>T	ENST00000286719.7	-	7	912	c.556G>A	c.(556-558)Gac>Aac	p.D186N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	186	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGATTAAGTCATCCAATTGG	0.284000													8	77					0	0	0.006214	0	0
CDV3	55573	broad.mit.edu	37	3	133302942	133302942	+	Silent	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:133302942A>G	ENST00000420115.2	+	3	310	c.108A>G	c.(106-108)tcA>tcG	p.S36S	CDV3_ENST00000264993.3_Silent_p.S138S|CDV3_ENST00000431519.2_Silent_p.S138S|CDV3_ENST00000515421.1_Silent_p.S36S|CDV3_ENST00000511392.1_Silent_p.S36S|CDV3_ENST00000508481.1_Silent_p.S36S	NM_001134423.1	NP_001127895.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	138	Ala-rich.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AAAAATCTTCAGGTCCCTGGA	0.403000													4	153					0	0	0.014758	0	0
KALRN	8997	broad.mit.edu	37	3	123987728	123987728	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:123987728G>T	ENST00000360013.3	+	5	716	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	KALRN_ENST00000460856.1_Missense_Mutation_p.A197S|KALRN_ENST00000240874.3_Missense_Mutation_p.A197S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	197					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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor 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						CTTCAACAGCGCCGTGCACCT	0.612000													12	24					3.27435e-08	4.0242e-08	0.020292	1	0
GLRA2	2742	broad.mit.edu	37	X	14748434	14748434	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:14748434C>A	ENST00000218075.4	+	9	1716	c.1186C>A	c.(1186-1188)Cca>Aca	p.P396T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P396T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P307T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	396					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ACCTGCCAACCCACTCCCACA	0.493000													53	172					2.36429e-26	3.78757e-26	0.014410	1	0
GALNTL6	442117	broad.mit.edu	37	4	173150846	173150846	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:173150846T>A	ENST00000506823.1	+	3	835	c.178T>A	c.(178-180)Tgg>Agg	p.W60R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.W43R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	60						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATTCTATTCATGGACAGATGG	0.433000													7	83					0	0	0.038147	0	0
PXDNL	137902	broad.mit.edu	37	8	52387683	52387683	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:52387683G>A	ENST00000356297.4	-	7	643	c.543C>T	c.(541-543)gcC>gcT	p.A181A	PXDNL_ENST00000543296.1_Silent_p.A181A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	181	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAAACCAGGGCGTTGGAAT	0.473000													10	40					0	0	0.033300	0	0
KCNH5	27133	broad.mit.edu	37	14	63417001	63417001	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr14:63417001C>A	ENST00000322893.7	-	7	1487	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W	KCNH5_ENST00000420622.2_Missense_Mutation_p.G407W|KCNH5_ENST00000394968.1_Missense_Mutation_p.G349W|KCNH5_ENST00000394964.2_Missense_Mutation_p.G349W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	407					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCCATATCCCAGCACTGGTA	0.468000													85	207					1.01459e-35	1.64171e-35	0.014410	1	0
FAM35A	54537	broad.mit.edu	37	10	88939887	88939887	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:88939887T>C	ENST00000298786.4	+	8	2340	c.2226T>C	c.(2224-2226)tcT>tcC	p.S742S	FAM35A_ENST00000298784.1_Silent_p.S673S			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	673										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TTACAGCATCTCAGAAGATAG	0.368000													10	276					0	0	0.020292	0	0
CECR2	27443	broad.mit.edu	37	22	18022493	18022493	+	Silent	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:18022493G>C	ENST00000262608.8	+	15	2598	c.2598G>C	c.(2596-2598)gcG>gcC	p.A866A	CECR2_ENST00000400585.2_Silent_p.A724A|CECR2_ENST00000400573.4_Silent_p.A865A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	907					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGATGATTGCGATGCAGCAGC	0.637000													9	73					0	0	0.008291	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937253	102937253	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:102937253G>A	ENST00000260247.5	-	5	727	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.R44C	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	129	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AACTGTGAGCGCAAAAAGTCA	0.279000													4	89					0	0	0.009096	0	0
MPEG1	219972	broad.mit.edu	37	11	58979598	58979598	+	Silent	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:58979598G>C	ENST00000361050.3	-	1	826	c.741C>G	c.(739-741)acC>acG	p.T247T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	247	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGAAGTTCACGGTGTTTTGAA	0.532000													15	47					0	0	0.024245	0	0
ACKR3	57007	broad.mit.edu	37	2	237490163	237490163	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:237490163C>T	ENST00000272928.3	+	2	1365	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.T352M(1)									GTCTCAGAGACGGAGTACTCT	0.522000													9	90					0	0	0.008291	0	0
PSG8	440533	broad.mit.edu	37	19	43258601	43258601	+	Missense_Mutation	SNP	C	C	G	rs141151331		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:43258601C>G	ENST00000404209.4	-	5	1223	c.1127G>C	c.(1126-1128)gGa>gCa	p.G376A	PSG8_ENST00000401467.2_Missense_Mutation_p.G283A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.G254A|PSG8_ENST00000306511.4_Missense_Mutation_p.G376A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	376	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAGCTTTTGTCCTGATAGCTG	0.463000													5	538					0	0	0.010729	0	0
FAM107A	11170	broad.mit.edu	37	3	58555535	58555535	+	Missense_Mutation	SNP	C	C	T	rs11539089		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:58555535C>T	ENST00000394481.1	-	3	611	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	FAM107A_ENST00000360997.2_Missense_Mutation_p.R18Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R46Q|FAM107A_ENST00000474531.1_Missense_Mutation_p.R49Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R18Q	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	18					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GTATTCTGGCCGGGCCATCAG	0.602000													8	67					0	0	0.013537	0	0
ZNF100	163227	broad.mit.edu	37	19	21910505	21910505	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:21910505T>C	ENST00000358296.6	-	5	807	c.609A>G	c.(607-609)aaA>aaG	p.K203K	ZNF100_ENST00000305570.6_Silent_p.K139K	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ATTTGAAAGGTTTCTTTCTAG	0.294000													6	132					0	0	0.021553	0	0
NKRF	55922	broad.mit.edu	37	X	118723933	118723933	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:118723933C>A	ENST00000371527.1	-	2	2107	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	NKRF_ENST00000304449.5_Missense_Mutation_p.E485D|NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	485					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.E485D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTACTTCACTCTCTAGAATCA	0.458000													5	182					0.00116845	0.00127973	0.021553	1	0
SCN5A	6331	broad.mit.edu	37	3	38595865	38595865	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:38595865C>T	ENST00000413689.1	-	27	4911	c.4718G>A	c.(4717-4719)gGc>gAc	p.G1573D	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1555D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1519D|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1572D|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1555D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1572D|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1573D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1573					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AATACACTCGCCTGTGAAGAT	0.498000													65	136					0	0	0.014410	0	0
EIF4E2	9470	broad.mit.edu	37	2	233421190	233421190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:233421190G>T	ENST00000409514.1	+	2	127	c.85G>T	c.(85-87)Gag>Tag	p.E29*	EIF4E2_ENST00000409167.3_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000258416.3_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409495.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409322.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409394.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000409098.1_Nonsense_Mutation_p.E29*|EIF4E2_ENST00000479834.1_3'UTR			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	29					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAGATGGTGAGAAGGAAAA	0.418000													11	30					9.70103e-10	1.25451e-09	0.008291	1	0
CLCN4	1183	broad.mit.edu	37	X	10181882	10181882	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:10181882G>T	ENST00000380833.4	+	11	2129	c.1738G>T	c.(1738-1740)Ggg>Tgg	p.G580W	CLCN4_ENST00000421085.2_Missense_Mutation_p.G486W|CLCN4_ENST00000380829.1_Missense_Mutation_p.G549W	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	580						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACTTAAATGGGTACCCTTT	0.602000													14	95					3.27435e-08	4.0242e-08	0.020292	1	0
FBXL7	23194	broad.mit.edu	37	5	15937114	15937114	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:15937114G>C	ENST00000504595.1	+	4	1776	c.1295G>C	c.(1294-1296)cGg>cCg	p.R432P	FBXL7_ENST00000510662.1_Missense_Mutation_p.R385P|FBXL7_ENST00000329673.7_Missense_Mutation_p.R420P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	432					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AACCTCAAGCGGCTCAGCCTC	0.582000													8	66					0	0	0.008291	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23383342	23383342	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:23383342T>G	ENST00000258729.3	-	9	1428	c.1072A>C	c.(1072-1074)Atg>Ctg	p.M358L		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	358					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTAACATTCATAGAAGCAATA	0.318000													51	161					0	0	0.014410	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381871	19381871	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:19381871G>A	ENST00000389363.4	-	2	231	c.159C>T	c.(157-159)agC>agT	p.S53S	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	53						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CATGGGACAAGCTGTAGACCG	0.607000													29	56					0	0	0.019004	0	0
NEK10	152110	broad.mit.edu	37	3	27243949	27243949	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:27243949G>A	ENST00000429845.2	-	25	2552	c.2190C>T	c.(2188-2190)taC>taT	p.Y730Y	NEK10_ENST00000383770.3_Silent_p.Y42Y|NEK10_ENST00000357467.2_Silent_p.Y127Y|NEK10_ENST00000383771.4_Silent_p.Y42Y|NEK10_ENST00000295720.6_Silent_p.Y42Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	730							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTAGTGCTGTAGAAGGGGG	0.483000													5	158					0	0	0.021553	0	0
DCDC2B	149069	broad.mit.edu	37	1	32677383	32677383	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:32677383T>G	ENST00000409358.1	+	3	340	c.340T>G	c.(340-342)Ttg>Gtg	p.L114V		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	114					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GACTCGCCACTTGTGTGATGG	0.577000													4	12					0	0	0.009096	0	0
ITIH2	3698	broad.mit.edu	37	10	7755153	7755153	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:7755153C>A	ENST00000358415.4	+	5	538	c.372C>A	c.(370-372)gaC>gaA	p.D124E	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.D113E	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	124	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.D124D(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGACTGTGGACGGCAAGACAT	0.473000													4	62					0.00909568	0.00963424	0.009096	1	0
SNX29	92017	broad.mit.edu	37	16	12662399	12662399	+	Silent	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:12662399G>C	ENST00000566228.1	+	21	2424	c.2355G>C	c.(2353-2355)cgG>cgC	p.R785R	SNX29_ENST00000306030.3_Silent_p.R400R|CTD-3037G24.3_ENST00000564505.1_RNA	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAACAGCCGGCCCAAAGCAG	0.622000													8	41					0	0	0.004482	0	0
ANKFY1	51479	broad.mit.edu	37	17	4120342	4120342	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:4120342C>T	ENST00000341657.4	-	4	429	c.394G>A	c.(394-396)Gat>Aat	p.D132N	ANKFY1_ENST00000574367.1_Missense_Mutation_p.D132N|ANKFY1_ENST00000570535.1_Missense_Mutation_p.D174N|ANKFY1_ENST00000433651.1_Missense_Mutation_p.D132N	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	132						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGGAACACATCATCCTCTCTG	0.448000													5	52					0	0	0.014758	0	0
VGLL3	389136	broad.mit.edu	37	3	87017782	87017782	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:87017782G>T	ENST00000398399.2	-	3	1258	c.895C>A	c.(895-897)Cat>Aat	p.H299N	VGLL3_ENST00000383698.3_Missense_Mutation_p.H299N	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ACTGTTCCATGAAAGGCTCCA	0.473000													25	87					3.73988e-18	5.6273e-18	0.030593	1	0
APBA2	321	broad.mit.edu	37	15	29390776	29390776	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:29390776G>A	ENST00000558402.1	+	10	1934	c.1335G>A	c.(1333-1335)acG>acA	p.T445T	APBA2_ENST00000558259.1_Silent_p.T445T|APBA2_ENST00000558330.1_Silent_p.T433T|APBA2_ENST00000411764.1_Silent_p.T433T|APBA2_ENST00000561069.1_Silent_p.T445T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	445	PID.				nervous system development|protein transport		protein binding			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)		ATGCAGACACGCAGGTAAGCG	0.483000													5	20					0	0	0.014758	0	0
DOCK8	81704	broad.mit.edu	37	9	432259	432259	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:432259T>C	ENST00000432829.2	+	37	4832	c.4516T>C	c.(4516-4518)Ttg>Ctg	p.L1506L	DOCK8_ENST00000382329.1_Silent_p.L1041L|DOCK8_ENST00000453981.1_Silent_p.L1574L|DOCK8_ENST00000469391.1_Silent_p.L1474L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1574	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGAAGATCCTTGAGGACAAT	0.468000													13	46					0	0	0.016723	0	0
NBEAP1	606	broad.mit.edu	37	15	20874864	20874864	+	RNA	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr15:20874864G>T	ENST00000556948.1	-	0	384																											ATTTTAAGGTGTGCATTATCT	0.343000													5	43					0.00116845	0.00127973	0.021553	1	0
ING5	84289	broad.mit.edu	37	2	242651391	242651391	+	Splice_Site	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:242651391A>T	ENST00000313552.6	+	5	414		c.e5-1		ING5_ENST00000482774.1_Splice_Site|ING5_ENST00000406941.1_Splice_Site	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5						DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ATTATTTTTCAGAAGGCCGGG	0.438000													13	13					0	0	0.024245	0	0
METTL21A	151194	broad.mit.edu	37	2	208489080	208489080	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:208489080T>G	ENST00000411432.1	-	2	236	c.20A>C	c.(19-21)gAg>gCg	p.E7A	METTL21A_ENST00000448007.2_Missense_Mutation_p.E7A|METTL21A_ENST00000425132.1_Missense_Mutation_p.E7A|METTL21A_ENST00000272839.3_Missense_Mutation_p.E7A|METTL21A_ENST00000432416.1_Missense_Mutation_p.E7A|METTL21A_ENST00000448823.2_Missense_Mutation_p.E7A|METTL21A_ENST00000442521.1_Missense_Mutation_p.E7A|METTL21A_ENST00000406927.2_Missense_Mutation_p.E7A|METTL21A_ENST00000426075.1_Missense_Mutation_p.E7A|METTL21A_ENST00000458426.1_Missense_Mutation_p.E7A	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	7						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CGTGGTCTCCTCATAGGGCAC	0.542000													26	85					0	0	0.024334	0	0
FERD3L	222894	broad.mit.edu	37	7	19185001	19185001	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:19185001C>A	ENST00000275461.3	-	0	43				AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CGGCTTGGCCCTGCCTCTCAT	0.632000													15	38					2.94398e-08	3.66009e-08	0.043863	1	0
DHX38	9785	broad.mit.edu	37	16	72137651	72137651	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:72137651A>T	ENST00000268482.3	+	13	2297	c.1788A>T	c.(1786-1788)agA>agT	p.R596S	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	596	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGCCAAGAGAGTCAGTGAAG	0.552000													5	26					0	0	0.004482	0	0
TLR7	51284	broad.mit.edu	37	X	12904932	12904932	+	Silent	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:12904932T>A	ENST00000380659.3	+	3	1444	c.1305T>A	c.(1303-1305)ccT>ccA	p.P435P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	435					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAATATCACCTTCAGGAGATT	0.343000													33	293					0	0	0.013726	0	0
MAP7D2	256714	broad.mit.edu	37	X	20082923	20082923	+	Splice_Site	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:20082923C>G	ENST00000379651.3	-	2	149	c.130_splice	c.e2-1	p.G44_splice	MAP7D2_ENST00000379643.5_Splice_Site_p.G44_splice|MAP7D2_ENST00000452324.3_5'UTR|MAP7D2_ENST00000443379.3_Splice_Site_p.G44_splice	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	44										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCCCTCCATGCCTACAAAGGA	0.428000													52	283					0	0	0.014410	0	0
DFNB31	25861	broad.mit.edu	37	9	117240830	117240830	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:117240830C>T	ENST00000374057.3	-	2	1488	c.840G>A	c.(838-840)gtG>gtA	p.V280V	DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	280	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCACCCCACTCACCTTTTTCT	0.642000													4	48					0	0	0.009096	0	0
NOM1	64434	broad.mit.edu	37	7	156756633	156756633	+	Missense_Mutation	SNP	A	A	G	rs114916388	byFrequency	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:156756633A>G	ENST00000275820.3	+	7	1961	c.1946A>G	c.(1945-1947)cAg>cGg	p.Q649R		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	649					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCCCGGAAGCAGAGGATGAAC	0.453000													27	28					0	0	0.030593	0	0
EDARADD	128178	broad.mit.edu	37	1	236645850	236645850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:236645850C>A	ENST00000359362.5	+	6	733	c.519C>A	c.(517-519)tgC>tgA	p.C173*	EDARADD_ENST00000334232.4_Nonsense_Mutation_p.C183*	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	183	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGAGCTCTGCAGGCTCTACC	0.622000													38	179					1.22674e-20	1.89909e-20	0.033182	1	0
DNAH10	196385	broad.mit.edu	37	12	124341758	124341758	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:124341758C>A	ENST00000409039.3	+	36	6265	c.6240C>A	c.(6238-6240)gtC>gtA	p.V2080V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2080	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGAGCAGGTCCTGGAGGAGA	0.527000													12	28					4.3838e-07	5.2671e-07	0.016723	1	0
CTNND1	1500	broad.mit.edu	37	11	57575697	57575697	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:57575697G>C	ENST00000524630.1	+	12	2519	c.2006G>C	c.(2005-2007)aGc>aCc	p.S669T	CTNND1_ENST00000529873.1_Missense_Mutation_p.S615T|CTNND1_ENST00000530748.1_Missense_Mutation_p.S621T|CTNND1_ENST00000361332.4_Missense_Mutation_p.S669T|CTNND1_ENST00000526772.1_Missense_Mutation_p.S346T|CTNND1_ENST00000358694.6_Missense_Mutation_p.S669T|CTNND1_ENST00000428599.2_Missense_Mutation_p.S669T|CTNND1_ENST00000532463.1_Missense_Mutation_p.S568T|CTNND1_ENST00000426142.2_Missense_Mutation_p.S568T|CTNND1_ENST00000526938.1_Missense_Mutation_p.S675T|CTNND1_ENST00000532844.1_Missense_Mutation_p.S621T|CTNND1_ENST00000527467.1_Missense_Mutation_p.S352T|CTNND1_ENST00000532245.1_Missense_Mutation_p.S568T|CTNND1_ENST00000415361.2_Missense_Mutation_p.S574T|CTNND1_ENST00000399050.4_Missense_Mutation_p.S675T|CTNND1_ENST00000534579.1_Missense_Mutation_p.S615T|CTNND1_ENST00000530094.1_Missense_Mutation_p.S568T|CTNND1_ENST00000361796.4_Missense_Mutation_p.S669T|CTNND1_ENST00000532649.1_Missense_Mutation_p.S615T|CTNND1_ENST00000528621.1_Missense_Mutation_p.S615T|CTNND1_ENST00000531014.1_Missense_Mutation_p.S346T|CTNND1_ENST00000529526.1_Missense_Mutation_p.S615T|CTNND1_ENST00000361391.6_Missense_Mutation_p.S669T|CTNND1_ENST00000532787.1_Missense_Mutation_p.S568T|CTNND1_ENST00000528232.1_Missense_Mutation_p.S574T|CTNND1_ENST00000360682.6_Missense_Mutation_p.S675T|CTNND1_ENST00000525902.1_Missense_Mutation_p.S352T|CTNND1_ENST00000529919.1_Missense_Mutation_p.S675T|CTNND1_ENST00000529986.1_Missense_Mutation_p.S568T|CTNND1_ENST00000399039.4_Missense_Mutation_p.S675T|CTNND1_ENST00000533667.1_Missense_Mutation_p.S346T|CTNND1_ENST00000526357.1_Missense_Mutation_p.S615T			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	675					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTAAGGAGAGCAAGACTCCT	0.478000													38	75					0	0	0.023175	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			28	25					0	0	0.017118	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722402	64722402	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:64722402C>T	ENST00000338957.4	+	5	1891	c.1824C>T	c.(1822-1824)acC>acT	p.T608T	ZC3H12B_ENST00000423889.3_Silent_p.T597T	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	597							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGCTGATACCCATCCTGAAG	0.493000													17	22					0	0	0.038395	0	0
SCN5A	6331	broad.mit.edu	37	3	38595866	38595866	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:38595866C>T	ENST00000413689.1	-	27	4910	c.4717G>A	c.(4717-4719)Ggc>Agc	p.G1573S	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1555S|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000455624.2_Splice_Site_p.G1572_splice|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1519S|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1572S|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1555S|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1572S|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1573S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1573					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATACACTCGCCTGTGAAGATG	0.498000													66	136					0	0	0.014410	0	0
LY9	4063	broad.mit.edu	37	1	160789137	160789137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:160789137C>T	ENST00000263285.5	+	7	1501	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*	LY9_ENST00000368040.1_Nonsense_Mutation_p.Q143*|LY9_ENST00000368041.2_Nonsense_Mutation_p.Q361*|LY9_ENST00000368035.1_Nonsense_Mutation_p.Q143*|LY9_ENST00000341032.4_Nonsense_Mutation_p.Q401*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	491					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTCCAGCCAAGCTGAGGC	0.483000													83	172					0	0	0.014410	0	0
ANK2	287	broad.mit.edu	37	4	114274542	114274542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:114274542G>T	ENST00000357077.4	+	38	4821	c.4768G>T	c.(4768-4770)Gag>Tag	p.E1590*	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1557*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1557					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTAGTTGAAGAGGAATGGGT	0.408000													26	185					2.80507e-11	3.76347e-11	0.012213	1	0
DENND2C	163259	broad.mit.edu	37	1	115166223	115166223	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:115166223C>T	ENST00000393274.1	-	5	1473	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	DENND2C_ENST00000393276.3_Missense_Mutation_p.R283Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R283Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	283								p.R283Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGAGTTCCGATTTCGAAA	0.318000													15	96					0	0	0.024245	0	0
ERCC2	2068	broad.mit.edu	37	19	45867504	45867504	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:45867504C>A	ENST00000391945.4	-	9	881	c.804G>T	c.(802-804)aaG>aaT	p.K268N	ERCC2_ENST00000485403.2_Missense_Mutation_p.K244N|ERCC2_ENST00000391940.4_Missense_Mutation_p.K244N|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.K190N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	268	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGAGCACCGTCTTCTGCAGGG	0.687000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	30					6.40141e-05	7.28358e-05	0.010729	1	0
PENK	5179	broad.mit.edu	37	8	57358315	57358315	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:57358315G>A	ENST00000518770.1	-	3	351	c.198C>T	c.(196-198)taC>taT	p.Y66Y	PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron			P01210	PENK_HUMAN	proenkephalin	125					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGCAGTCCGCGTACTGTTGCG	0.682000													11	35					0	0	0.008291	0	0
ADCY2	108	broad.mit.edu	37	5	7626381	7626381	+	Silent	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr5:7626381T>C	ENST00000338316.4	+	4	761	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	224					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGGACACCTGTAATTGCATCA	0.413000													58	151					0	0	0.014410	0	0
KCNB1	3745	broad.mit.edu	37	20	47991417	47991417	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:47991417G>A	ENST00000371741.4	-	2	846	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	227					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCCAGCTGGGGGTTGTCTGT	0.577000													19	57					0	0	0.010504	0	0
GPR89A	653519	broad.mit.edu	37	1	145765424	145765424	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:145765424G>A	ENST00000313835.9	-	13	1249	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	GPR89A_ENST00000534502.1_Missense_Mutation_p.A344V|GPR89A_ENST00000462900.2_Missense_Mutation_p.A344V|GPR89A_ENST00000454423.3_Missense_Mutation_p.A249V			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	369					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GCTAGAGATGGCATAAAAGAA	0.338000													9	667					0	0	0.006214	0	0
MUC4	4585	broad.mit.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:195516064C>T	ENST00000463781.3	-	2	2846	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_ENST00000475231.1_Missense_Mutation_p.R796Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.R796Q(1)		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)		TGAGGTGGTTCGTGACCCTGA	0.602000													19	59					0	0	0.008871	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597524	136597524	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr6:136597524G>T	ENST00000531224.1	-	5	1391	c.1139C>A	c.(1138-1140)gCt>gAt	p.A380D	BCLAF1_ENST00000353331.4_Missense_Mutation_p.A378D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A378D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A380D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A378D|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	380					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAATCTAGAGCTTCCTGATC	0.428000													17	581					1.33834e-09	1.70334e-09	0.043863	1	0
RP1L1	94137	broad.mit.edu	37	8	10469612	10469612	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:10469612T>A	ENST00000382483.3	-	4	2219	c.1996A>T	c.(1996-1998)Agg>Tgg	p.R666W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	666					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAGAATGCCTGGGATGGCCT	0.647000													28	47					0	0	0.041601	0	0
ITIH2	3698	broad.mit.edu	37	10	7755155	7755155	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:7755155G>C	ENST00000358415.4	+	5	540	c.374G>C	c.(373-375)gGc>gCc	p.G125A	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.G114A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	125	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACTGTGGACGGCAAGACATTT	0.478000													4	62					0	0	0.009096	0	0
ACLY	47	broad.mit.edu	37	17	40034439	40034439	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:40034439C>T	ENST00000352035.2	-	22	2534	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	ACLY_ENST00000393896.2_Missense_Mutation_p.E792K|ACLY_ENST00000537919.1_Missense_Mutation_p.E531K|ACLY_ENST00000590151.1_Missense_Mutation_p.E802K|ACLY_ENST00000353196.1_Missense_Mutation_p.E792K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	802					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACGAGATCTTCGTATACAGAC	0.507000													3	40					0	0	0.009096	0	0
LTN1	26046	broad.mit.edu	37	21	30329087	30329087	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr21:30329087T>A	ENST00000361371.4	-	16	3226	c.3076A>T	c.(3076-3078)Ata>Tta	p.I1026L	LTN1_ENST00000389194.2_Missense_Mutation_p.I1072L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1026							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACTTACTTATTTTCTCAAGC	0.284000													8	33					0	0	0.038147	0	0
ENAH	55740	broad.mit.edu	37	1	225707048	225707048	+	Silent	SNP	C	C	T	rs71170086		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:225707048C>T	ENST00000366844.2	-	5	1105	c.654G>A	c.(652-654)cgG>cgA	p.R218R	ENAH_ENST00000366843.2_Silent_p.R218R|ENAH_ENST00000284563.6_Silent_p.R237R|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	218					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GGcgttcctgccgctccaggc	0.597000													5	89					0	0	0.014758	0	0
C20orf195	79025	broad.mit.edu	37	20	62187642	62187642	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:62187642C>T	ENST00000370098.3	+	2	718	c.626C>T	c.(625-627)cCt>cTt	p.P209L	C20orf195_ENST00000370097.1_Missense_Mutation_p.P209L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	209										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACCAAGATGCCTGTCGTGTTT	0.617000													15	44					0	0	0.012319	0	0
RP1L1	94137	broad.mit.edu	37	8	10467776	10467776	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:10467776T>C	ENST00000382483.3	-	4	4055	c.3832A>G	c.(3832-3834)Aga>Gga	p.R1278G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1278					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCACTGTCTCTTTCTGCTTCA	0.512000													17	99					0	0	0.043863	0	0
LIX1L	128077	broad.mit.edu	37	1	145487315	145487315	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:145487315G>C	ENST00000369308.3	+	2	378	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	102										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAATGTGGTGGAGGCACTTCA	0.468000													5	172					0	0	0.014758	0	0
EPHB1	2047	broad.mit.edu	37	3	134851647	134851647	+	Silent	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:134851647G>T	ENST00000398015.3	+	5	1423	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	351	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGGTGGGCGGGATGATGTGA	0.587000													15	38					1.05317e-09	1.35648e-09	0.020292	1	0
PURG	29942	broad.mit.edu	37	8	30889476	30889476	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:30889476A>G	ENST00000475541.1	-	1	1755	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	PURG_ENST00000339382.2_Missense_Mutation_p.Y275H	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	275						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ACATCAAAGTAGAACCTTTTA	0.438000													22	42					0	0	0.012319	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489713	45489713	+	Splice_Site	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:45489713A>T	ENST00000541297.2	+	7	1096	c.630_splice	c.e7-1	p.R211_splice	CLPTM1_ENST00000337392.5_Splice_Site_p.R225_splice|CLPTM1_ENST00000546079.1_Splice_Site_p.R123_splice|CLPTM1_ENST00000589158.1_3'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	225					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GTTGCCTCAGAGGGCTGAGGA	0.577000													13	104					0	0	0.028581	0	0
LRP2	4036	broad.mit.edu	37	2	170063148	170063148	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:170063148G>A	ENST00000263816.3	-	39	7367	c.7082C>T	c.(7081-7083)cCt>cTt	p.P2361L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2361	EGF-like 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGCAATCCAGGCAGAGCAAA	0.488000													34	99					0	0	0.023175	0	0
ZNF133	7692	broad.mit.edu	37	20	18296289	18296289	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:18296289C>T	ENST00000377671.3	+	7	1350	c.791C>T	c.(790-792)tCg>tTg	p.S264L	ZNF133_ENST00000316358.4_Missense_Mutation_p.S265L|ZNF133_ENST00000538547.1_Missense_Mutation_p.S170L|ZNF133_ENST00000402618.2_Missense_Mutation_p.S202L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.S268L|ZNF133_ENST00000401790.1_Missense_Mutation_p.S265L|ZNF133_ENST00000535822.1_Missense_Mutation_p.S170L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	265						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAGGCACACTCGGGGGAGAAG	0.552000													5	78					0	0	0.014758	0	0
MUC5B	727897	broad.mit.edu	37	11	1267038	1267038	+	Silent	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr11:1267038C>A	ENST00000447027.1	+	31	8995	c.8937C>A	c.(8935-8937)gcC>gcA	p.A2979A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.A2976A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2976	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCCGGCCACCAGCTCTA	0.607000													6	11					5.18039e-06	6.08791e-06	0.038147	1	0
COLGALT1	79709	broad.mit.edu	37	19	17671210	17671210	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr19:17671210A>T	ENST00000252599.4	+	3	545	c.425A>T	c.(424-426)cAt>cTt	p.H142L		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CGCTACGAGCATGTCATGAAG	0.552000													14	35					0	0	0.033300	0	0
AQP7	364	broad.mit.edu	37	9	33386084	33386084	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:33386084G>A	ENST00000537089.1	-	5	558	c.240C>T	c.(238-240)ttC>ttT	p.F80F	AQP7_ENST00000377425.4_Silent_p.F115F|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Silent_p.F172F			O14520	AQP7_HUMAN	aquaporin 7	172					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTCATTCAGGAAGCCCCGCC	0.587000													17	93					0	0	0.038395	0	0
LIMK2	3985	broad.mit.edu	37	22	31644745	31644745	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:31644745G>T	ENST00000333611.4	+	1	358	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Intron|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.D15Y	NM_016733.2	NP_057952.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CACCTCCAGAGACCTGTTTCG	0.552000													17	105					2.4624e-09	3.12162e-09	0.008871	1	0
ZNF831	128611	broad.mit.edu	37	20	57768689	57768689	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr20:57768689G>T	ENST00000371030.2	+	1	2615	c.2615G>T	c.(2614-2616)aGt>aTt	p.S872I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	872						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCAAAGGAGAGTGCCAGGCAG	0.657000													12	49					3.45872e-05	3.97752e-05	0.028581	1	0
RADIL	55698	broad.mit.edu	37	7	4917468	4917468	+	Silent	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:4917468G>A	ENST00000399583.3	-	2	490	c.303C>T	c.(301-303)gcC>gcT	p.A101A	RADIL_ENST00000536091.1_Silent_p.A101A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	101	Ras-associating.				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)		TGGGGTCCAGGGCGTACCGCT	0.682000													8	30					0	0	0.010729	0	0
GPR34	2857	broad.mit.edu	37	X	41555023	41555023	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:41555023G>T	ENST00000378142.4	+	3	421	c.137G>T	c.(136-138)tGt>tTt	p.C46F	CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.C46F|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	46						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTACTACCTGTCCCATGGAT	0.443000													34	83					1.90571e-15	2.77664e-15	0.019004	1	0
HELB	92797	broad.mit.edu	37	12	66698690	66698690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:66698690C>T	ENST00000247815.4	+	2	426	c.367C>T	c.(367-369)Caa>Taa	p.Q123*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	123					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACCACCAAATCAAAAACATAT	0.368000													9	134					0	0	0.006214	0	0
OTOP1	133060	broad.mit.edu	37	4	4228436	4228436	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:4228436G>C	ENST00000296358.4	-	1	180	c.156C>G	c.(154-156)agC>agG	p.S52R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	52					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTGTGGGACGCTGGCGCGCA	0.746000													4	11					0	0	0.021553	0	0
RYR2	6262	broad.mit.edu	37	1	237969450	237969450	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:237969450T>C	ENST00000366574.2	+	99	14482	c.14165T>C	c.(14164-14166)cTa>cCa	p.L4722P	RYR2_ENST00000360064.6_Missense_Mutation_p.L4728P|RYR2_ENST00000542537.1_Missense_Mutation_p.L4706P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4722					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCTCTACCTAGCCTGGTAT	0.403000													21	37					0	0	0.012319	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509746	106509746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:106509746C>A	ENST00000359195.3	+	2	2050	c.1740C>A	c.(1738-1740)taC>taA	p.Y580*	PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.Y580*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.Y580*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	580					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATTTTAGATACGAAAGCCTTA	0.448000													51	83					4.00472e-15	5.7826e-15	0.014410	1	0
IKBKAP	8518	broad.mit.edu	37	9	111689661	111689661	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:111689661G>A	ENST00000374647.5	-	4	683	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	126					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|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						CCTGTGGCAAGAAGCACCAGC	0.443000													35	86					0	0	0.030466	0	0
MCM6	4175	broad.mit.edu	37	2	136603920	136603920	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:136603920T>C	ENST00000264156.2	-	15	2156	c.2096A>G	c.(2095-2097)tAc>tGc	p.Y699C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	699					cell cycle checkpoint|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	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)	GTCTTCATTGTAGCCATTGAT	0.458000													49	473					0	0	0.014410	0	0
EFCAB1	79645	broad.mit.edu	37	8	49637302	49637302	+	Silent	SNP	C	C	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:49637302C>T	ENST00000433756.1	-	5	638	c.479G>A	c.(478-480)tGa>tAa	p.*160*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Silent_p.*160*|EFCAB1_ENST00000262103.3_Silent_p.*212*	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	0	EF-hand 3.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTTAGTTATTCACATATCATT	0.289000													4	12					0	0	0.009096	0	0
PES1	23481	broad.mit.edu	37	22	30976163	30976163	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:30976163C>G	ENST00000402281.1	-	13	1620	c.629G>C	c.(628-630)aGt>aCt	p.S210T	PES1_ENST00000354694.6_Missense_Mutation_p.S349T|PES1_ENST00000405677.1_Missense_Mutation_p.S210T|PES1_ENST00000335214.6_Missense_Mutation_p.S344T|PES1_ENST00000402284.3_Missense_Mutation_p.S332T			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	349	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCACCAAAACTCCTACAGGG	0.587000													3	34					0	0	0.004672	0	0
KIAA1211	57482	broad.mit.edu	37	4	57164495	57164495	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr4:57164495G>T	ENST00000504228.1	+	2	205	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G34C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.W19C			Q6ZU35	K1211_HUMAN	KIAA1211	34										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAACATCCTGGGCAAAGTCAA	0.493000													18	111					6.94344e-10	9.01528e-10	0.038395	1	0
LRP2	4036	broad.mit.edu	37	2	170063141	170063141	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:170063141C>A	ENST00000263816.3	-	39	7374	c.7089G>T	c.(7087-7089)ttG>ttT	p.L2363F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2363	EGF-like 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGGGGTGTGCAATCCAGGCA	0.483000													38	95					8.16277e-20	1.25761e-19	0.027894	1	0
RGS18	64407	broad.mit.edu	37	1	192127796	192127796	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:192127796A>T	ENST00000367460.3	+	1	210	c.29A>T	c.(28-30)cAa>cTa	p.Q10L	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	10					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCTTTTCTCAAATAAATATG	0.279000													9	61					0	0	0.004482	0	0
KLRG2	346689	broad.mit.edu	37	7	139164445	139164445	+	Silent	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:139164445C>G	ENST00000340940.4	-	3	1002	c.933G>C	c.(931-933)gcG>gcC	p.A311A	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	311	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCCAGGCCTGCGCTTCTGCAG	0.617000													9	57					0	0	0.004482	0	0
FRMPD1	22844	broad.mit.edu	37	9	37732384	37732384	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr9:37732384G>T	ENST00000539465.1	+	10	1535	c.942G>T	c.(940-942)caG>caT	p.Q314H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Q136H|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q314H|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Q183H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	314	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGCACATCCAGGAACGGATCT	0.498000													9	61					2.17888e-05	2.52374e-05	0.006214	1	0
ASXL3	80816	broad.mit.edu	37	18	31250636	31250636	+	Splice_Site	SNP	G	G	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr18:31250636G>T	ENST00000269197.5	+	6	477		c.e6-1			NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGTTTTGTAGGCTTTGAGGC	0.333000													7	4					2.0095e-06	2.37889e-06	0.029380	1	0
SCN4A	6329	broad.mit.edu	37	17	62041867	62041867	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr17:62041867C>A	ENST00000435607.1	-	9	1489	c.1413G>T	c.(1411-1413)atG>atT	p.M471I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M471I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	471					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACTTCTCAAGCATCTGCTGAA	0.562000													14	25					8.60227e-14	1.19394e-13	0.028581	1	0
TPTE	7179	broad.mit.edu	37	21	10934986	10934986	+	Silent	SNP	C	C	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr21:10934986C>G	ENST00000298232.7	-	14	1120	c.753G>C	c.(751-753)cgG>cgC	p.R251R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.R231R|TPTE_ENST00000361285.4_Silent_p.R269R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	269	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATCTAGAAACCGCACAACTT	0.343000													5	201					0	0	0.014758	0	0
ACTN2	88	broad.mit.edu	37	1	236898981	236898981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:236898981C>A	ENST00000366578.4	+	8	910	c.744C>A	c.(742-744)taC>taA	p.Y248*	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	248	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.Y248Y(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATGACGTACGTCTCTTGCT	0.522000													42	73					1.51926e-22	2.39804e-22	0.014410	1	0
FNBP1L	54874	broad.mit.edu	37	1	93998519	93998519	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:93998519G>C	ENST00000260506.8	+	8	831	c.680G>C	c.(679-681)aGt>aCt	p.S227T	FNBP1L_ENST00000370256.4_Missense_Mutation_p.S227T|FNBP1L_ENST00000370253.2_Missense_Mutation_p.S227T|FNBP1L_ENST00000271234.7_Missense_Mutation_p.S227T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.S227T	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	227	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATTAAACTCAGTGAGTGTTAC	0.328000													9	45					0	0	0.004482	0	0
CACNB2	783	broad.mit.edu	37	10	18825107	18825107	+	Silent	SNP	A	A	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:18825107A>G	ENST00000396576.2	+	11	1620	c.1119A>G	c.(1117-1119)aaA>aaG	p.K373K	CACNB2_ENST00000352115.6_Silent_p.K404K|CACNB2_ENST00000324631.7_Silent_p.K428K|CACNB2_ENST00000377329.4_Silent_p.K374K|CACNB2_ENST00000377328.1_Silent_p.K178K|CACNB2_ENST00000282343.8_Silent_p.K400K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.K380K|CACNB2_ENST00000377331.2_Silent_p.K376K|CACNB2_ENST00000377319.3_Silent_p.K335K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	428					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGCTGATAAACTGGCTCAGT	0.338000													38	103					0	0	0.039052	0	0
DSG1	1828	broad.mit.edu	37	18	28916419	28916419	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr18:28916419T>A	ENST00000257192.4	+	9	1320	c.1108T>A	c.(1108-1110)Tct>Act	p.S370T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	370	Cadherin 3.				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)			ACTGAAAGCATCTGCAATTTC	0.348000													39	98					0	0	0.027894	0	0
POLDIP3	84271	broad.mit.edu	37	22	42995708	42995708	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr22:42995708T>C	ENST00000252115.5	-	4	733	c.629A>G	c.(628-630)cAc>cGc	p.H210R	POLDIP3_ENST00000451060.2_Missense_Mutation_p.H54R|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.H181R|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	210					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCATACCATGTGGTGGAGAAA	0.428000													4	94					0	0	0.014758	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247404	142247404	+	RNA	SNP	G	G	A			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr7:142247404G>A	ENST00000390361.3	-	0	101																											GCACCTGTGTGATCTGCGGAG	0.478000													12	103					0	0	0.013537	0	0
KIF1B	23095	broad.mit.edu	37	1	10355184	10355185	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:10355184_10355185insT	ENST00000377086.1	+	18	1833_1834	c.1631_1632insT	c.(1630-1632)tgafs	p.*544fs	KIF1B_ENST00000377093.4_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.*498fs|KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.*544fs			O60333	KIF1B_HUMAN	kinesin family member 1B	544					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCACTAATGTCTGAGTGCCTAC	0.386													19	240	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597983	144597991	+	RNA	DEL	CAGATAGAC	CAGATAGAC	-	rs111294330		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:144597983_144597991delCAGATAGAC	ENST00000419820.1	+	0	439																											TATACGTGTACAGATAGACCAGATAGACC	0.402													3	5	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815041	156815041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:156815041delC	ENST00000368195.3	-	12	2660	c.2264delG	c.(2263-2265)gcfs	p.G755fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	755					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGAGCTGTTGCCCCCCAGCCG	0.687													7	23	---	---	---	---					
OR2L3	391192	broad.mit.edu	37	1	248224523	248224523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr1:248224523delC	ENST00000359959.3	+	1	540	c.540delC	c.(538-540)gtfs	p.V180fs	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTGTGATGTCCCAGCAATGG	0.463													7	388	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34041837	34041838	+	RNA	INS	-	-	CCTCC	rs140516377	by1000genomes	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.480													2	4	---	---	---	---					
FOXP1	27086	broad.mit.edu	37	3	71027086	71027087	+	Frame_Shift_Ins	INS	-	-	G	rs79651000	by1000genomes	TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr3:71027086_71027087insG	ENST00000318789.4	-	15	1765_1766	c.1240_1241insC	c.(1240-1242)gacfs	p.D414fs	FOXP1_ENST00000498215.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000493089.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000484350.1_Frame_Shift_Ins_p.D338fs|FOXP1_ENST00000475937.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000468577.1_Frame_Shift_Ins_p.D414fs|FOXP1_ENST00000491238.1_Frame_Shift_Ins_p.D416fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	414					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GACGGGAGTCAGGGGGGCGGTT	0.569			T	PAX5	ALL								7	348	---	---	---	---					
RP11-489E7.1	0	broad.mit.edu	37	8	29766197	29766197	+	RNA	DEL	A	A	-	rs67281389		TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:29766197delA	ENST00000521908.1	+	0	275																											gaaaagaaagaaaagaaagaa	0.458													2	4	---	---	---	---					
ADRB3	155	broad.mit.edu	37	8	37823031	37823032	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr8:37823031_37823032insC	ENST00000345060.3	-	1	1451_1452	c.956_957insG	c.(955-957)gccfs	p.A319fs	ADRB3_ENST00000520341.1_5'UTR	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	319					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CTAGAGAGGGGCCCCCCAGGGC	0.629													2	4	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70506934	70506935	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:70506934_70506935insC	ENST00000265872.6	+	7	654_655	c.535_536insC	c.(535-537)cccfs	p.P179fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.P164fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.P164fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	179					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAAAGGGAAAACCCCCCAAGTA	0.307													9	115	---	---	---	---					
CPEB3	22849	broad.mit.edu	37	10	93999919	93999920	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr10:93999919_93999920insG	ENST00000412050.4	-	2	276_277	c.188_189insC	c.(187-189)cgcfs	p.R63fs	CPEB3_ENST00000265997.4_Frame_Shift_Ins_p.R63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CGTTGGGGGCCGGGGGGGCAGC	0.693													3	4	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7044824	7044825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr12:7044824_7044825insC	ENST00000356654.4	+	5	631_632	c.394_395insC	c.(394-396)cccfs	p.P132fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P132fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	132					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCGAAGCACGTCCCCCAGTATC	0.594													7	475	---	---	---	---					
ATF7IP2	80063	broad.mit.edu	37	16	10574747	10574748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:10574747_10574748insC	ENST00000396560.2	+	11	1788_1789	c.1561_1562insC	c.(1561-1563)cccfs	p.P521fs	ATF7IP2_ENST00000356427.2_Frame_Shift_Ins_p.P521fs|ATF7IP2_ENST00000543967.1_Frame_Shift_Ins_p.P65fs|ATF7IP2_ENST00000324570.5_Frame_Shift_Ins_p.YP498fs|ATF7IP2_ENST00000396559.1_Frame_Shift_Ins_p.YP498fs	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGTCCAGTATCCCCCCTGGAG	0.406													7	458	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	58810403	58810403	+	RNA	DEL	C	C	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr16:58810403delC	ENST00000500117.1	+	0	679																											AAGCTGCGCGCCCATGAGTTT	0.562													13	29	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28797499	28797501	+	RNA	DEL	TCC	TCC	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chr21:28797499_28797501delTCC	ENST00000420186.2	-	0	202																											cttccttccttccccctccctcc	0.399													2	4	---	---	---	---					
GPR34	2857	broad.mit.edu	37	X	41555104	41555131	+	Frame_Shift_Del	DEL	TAATCGCCCTCTATGTATTTCTGGGTAT	TAATCGCCCTCTATGTATTTCTGGGTAT	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:41555104_41555131delTAATCGCCCTCTATGTATTTCTGGGTAT	ENST00000378142.4	+	3	502_529	c.218_245delTAATCGCCCTCTATGTATTTCTGGGTAT	c.(217-246)atfs	p.IIALYVFLGI73fs	CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Frame_Shift_Del_p.IIALYVFLGI73fs|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	73						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A75T(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTGGGAACATAATCGCCCTCTATGTATTTCTGGGTATTCACCGTAAA	0.390													10	177	---	---	---	---					
GPKOW	27238	broad.mit.edu	37	X	48979004	48979005	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:48979004_48979005insT	ENST00000156109.5	-	2	376_377	c.298_299insA	c.(298-300)ggtfs	p.G100fs		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	100						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CTGGGACACCACCCCATCCGCC	0.589													15	59	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													8	15	---	---	---	---					
SATL1	340562	broad.mit.edu	37	X	84363285	84363285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z060-01A-01W-0747-08	TCGA-17-Z060-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f834dfa4-8d9c-4e0b-861f-a3cc31245237	f8c1cf51-337d-4bc7-8ab4-131453e10d1c	g.chrX:84363285delT	ENST00000509231.1	-	1	769	c.690delA	c.(688-690)cafs	p.Q230fs	SATL1_ENST00000332921.5_Frame_Shift_Del_p.Q43fs|SATL1_ENST00000395409.3_Frame_Shift_Del_p.Q43fs			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	43	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TAGTGTCTGGTTGCCTTATGC	0.507													54	119	---	---	---	---					
