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
EFNB3	1949	broad.mit.edu	37	17	7611407	7611407	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7611407G>A	ENST00000226091.2	+	2	651	c.254G>A	c.(253-255)gGg>gAg	p.G85E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	85					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TACCTGGTAGGGGGTGCTCAG	0.627000													57	54					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													7	131					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681435	70681435	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:70681435T>C	ENST00000377844.4	-	1	1156	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	133					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAAGTCCATGCCTGGCACC	0.587000													84	31					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125826019	125826019	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:125826019G>A	ENST00000393434.2	-	21	2767	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.F816F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000452905.2_Silent_p.F705F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	806	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACAGGCCCGAAGGACTCCT	0.512000													56	336					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277110	160277110	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:160277110C>T	ENST00000264431.4	+	23	4693	c.4274C>T	c.(4273-4275)cCg>cTg	p.P1425L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1425					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCCAGGAAACCGCCGGACTAC	0.612000													7	6					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94024258	94024258	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:94024258T>C	ENST00000265140.5	+	17	2588	c.2169T>C	c.(2167-2169)tcT>tcC	p.S723S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	723										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TGCTTGGGTCTGGAAAGATTC	0.378000													34	58					0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8077876	8077876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:8077876C>T	ENST00000316425.5	-	4	445	c.333G>A	c.(331-333)tgG>tgA	p.W111*	TMEM107_ENST00000437139.2_Nonsense_Mutation_p.W105*|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000431792.2_Intron	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN	transmembrane protein 107	105						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						TAGTGCACTCCCAACGCTCGA	0.493000													88	277					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100995422	100995422	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:100995422C>T	ENST00000335290.6	+	6	1516	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	WDR25_ENST00000542471.2_Silent_p.P173P|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	430										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCACCTGCCCCAGCCTCGCCT	0.622000													21	82					0	0	1	0	0
C9orf91	203197	broad.mit.edu	37	9	117399306	117399306	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:117399306C>A	ENST00000374049.4	+	7	1062	c.625C>A	c.(625-627)Cag>Aag	p.Q209K	C9orf91_ENST00000288502.4_Missense_Mutation_p.Q208K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	208						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAACTGTGTGCAGTTTTTGTC	0.468000													32	84					6.00712e-18	6.84812e-18	1	1	0
RSPH1	89765	broad.mit.edu	37	21	43897434	43897434	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:43897434C>T	ENST00000291536.3	-	7	861	c.694G>A	c.(694-696)Gat>Aat	p.D232N	RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	232					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCAGGTCCATCCGTAGAGGTC	0.597000													25	47					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39763954	39763954	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:39763954C>A	ENST00000395670.3	-	2	573	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	KIF21A_ENST00000361418.5_Missense_Mutation_p.D52Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	52	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATACATAGTCAAAAGTAAAA	0.388000													40	118					2.87052e-16	3.24642e-16	1	1	0
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418000													94	106					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263268	156263268	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:156263268A>G	ENST00000362007.1	-	5	924	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	C1orf85_ENST00000368264.1_3'UTR|C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	300					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GAAGCTTGGCAGGGCAGGGCT	0.582000													11	34					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208648	53208648	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53208648C>T	ENST00000543227.1	-	6	1934	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	ZNF611_ENST00000319783.1_Missense_Mutation_p.A554T|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485T|ZNF611_ENST00000602162.1_Missense_Mutation_p.A485T|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554T|ZNF611_ENST00000453741.2_Missense_Mutation_p.A485T	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A554S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTATGTTTTGCCAGATAGGAA	0.403000													5	401					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130737546	130737546	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130737546C>T	ENST00000264992.3	-	4	1758	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	ASTE1_ENST00000514044.1_Silent_p.R439R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	439					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GCATCTGCCGCCTCCTCAAGG	0.433000													17	79					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139484	90139484	+	RNA	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:90139484C>A	ENST00000492446.1	+	0	282																											CAAGGTTCAGCGGCAGTGGAT	0.498000													94	160					5.4523e-64	6.58435e-64	1	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													4	34					0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31120604	31120604	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:31120604C>A	ENST00000394951.1	+	3	683	c.60C>A	c.(58-60)ctC>ctA	p.L20L	BCKDK_ENST00000394950.3_Silent_p.L20L|BCKDK_ENST00000287507.3_Silent_p.L20L|BCKDK_ENST00000219794.6_Silent_p.L20L|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	20					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TCCGGCCCCTCCTGGGACCCG	0.697000													4	18					0.184627	0.185277	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176012980	176012980	+	Silent	SNP	C	C	T	rs114350001	by1000genomes	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:176012980C>T	ENST00000510636.1	+	20	3034	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CDHR2_ENST00000261944.5_Silent_p.D920D|CDHR2_ENST00000506348.1_Silent_p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	920	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATTGAGGACGTGAATGACA	0.522000													29	94					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153176046	153176046	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:153176046C>G	ENST00000370028.3	-	17	2013	c.1956G>C	c.(1954-1956)gaG>gaC	p.E652D	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.E612D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	612	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCACCCTCTCCGCTGTGG	0.701000													9	9					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17206556	17206556	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:17206556G>C	ENST00000180173.5	-	5	537	c.503C>G	c.(502-504)cCc>cGc	p.P168R	MTMR7_ENST00000521857.1_Missense_Mutation_p.P168R|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	168	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGCCGATTTGGGAACGTACAG	0.453000													38	102					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534049	7534049	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534049T>C	ENST00000380450.4	+	3	286	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SHBG_ENST00000576478.1_Silent_p.F27F|SHBG_ENST00000416273.3_Silent_p.F85F|SHBG_ENST00000570547.1_Silent_p.F27F|SHBG_ENST00000575903.1_Silent_p.F85F|SHBG_ENST00000340624.5_Silent_p.F27F|SHBG_ENST00000441599.2_Silent_p.F85F|SHBG_ENST00000575314.1_Silent_p.F27F|SHBG_ENST00000576728.1_Silent_p.F27F|SHBG_ENST00000574539.1_Silent_p.F27F|SHBG_ENST00000572182.1_Silent_p.F27F|SHBG_ENST00000572262.1_Silent_p.F27F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	85	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GAGTGATTTTTTATGGGGATA	0.512000													7	114					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44133692	44133692	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:44133692T>C	ENST00000372396.3	+	9	1297		c.e9+2			NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGACAAGGTAACCCAGCAG	0.532000													138	61					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52384124	52384124	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:52384124G>T	ENST00000420323.2	+	15	2907	c.2646_splice	c.e15+1	p.E882_splice		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	882	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGGCCTGGAGGTGAGGCAGG	0.652000													11	10					3.07112e-06	3.27816e-06	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987012	61987012	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:61987012G>A	ENST00000409186.1	-	5	3325	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	380	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTACAGCAGGGATGCAGCC	0.428000													23	115					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71508497	71508497	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71508497C>T	ENST00000521425.1	-	5	1264		c.e5+1		TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000521049.1_Intron			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAATGACTTACGTCATCAGGT	0.368000													79	107					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855803	23855803	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:23855803G>T	ENST00000405093.3	-	33	4750	c.4680C>A	c.(4678-4680)atC>atA	p.I1560I	MYH6_ENST00000356287.3_Silent_p.I1560I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1560					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGCCCGGAGGATCTTGCCCT	0.632000													31	199					8.88839e-20	1.02558e-19	1	1	0
UAP1	6675	broad.mit.edu	37	1	162549382	162549382	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:162549382C>A	ENST00000271469.3	+	4	952	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	UAP1_ENST00000367925.1_Missense_Mutation_p.S217Y|UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	217					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACAAAGTTTCTATGGCTCCA	0.318000													56	41					4.88506e-25	5.72939e-25	1	1	0
IFT80	57560	broad.mit.edu	37	3	160000392	160000392	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:160000392A>C	ENST00000326448.7	-	14	1822	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	464						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAATTTCCAAGATTTCATTC	0.259000													28	142					0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534051	7534051	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7534051A>T	ENST00000380450.4	+	3	288	c.257A>T	c.(256-258)tAt>tTt	p.Y86F	SHBG_ENST00000576478.1_Missense_Mutation_p.Y28F|SHBG_ENST00000416273.3_Missense_Mutation_p.Y86F|SHBG_ENST00000570547.1_Missense_Mutation_p.Y28F|SHBG_ENST00000575903.1_Missense_Mutation_p.Y86F|SHBG_ENST00000340624.5_Missense_Mutation_p.Y28F|SHBG_ENST00000441599.2_Missense_Mutation_p.Y86F|SHBG_ENST00000575314.1_Missense_Mutation_p.Y28F|SHBG_ENST00000576728.1_Missense_Mutation_p.Y28F|SHBG_ENST00000574539.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572182.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572262.1_Missense_Mutation_p.Y28F	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	86	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GTGATTTTTTATGGGGATACC	0.512000													7	118					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111147088	111147088	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:111147088A>G	ENST00000485317.1	-	3	990	c.317T>C	c.(316-318)tTa>tCa	p.L106S	KCNA2_ENST00000369770.3_Missense_Mutation_p.L106S|KCNA2_ENST00000440270.1_Missense_Mutation_p.L106S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.L106S			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	106						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GAATATATCTAAGGGCACATT	0.473000													3	35					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136232	40136232	+	Silent	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40136232T>A	ENST00000278198.2	-	2	3574	c.1611A>T	c.(1609-1611)acA>acT	p.T537T	LRRC4C_ENST00000528697.1_Silent_p.T537T|LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000530763.1_Silent_p.T537T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	537					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGCCATGAGTGTGATGGCCA	0.453000													8	85					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506762	11506762	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:11506762G>C	ENST00000500254.2	-	3	312	c.275C>G	c.(274-276)tCt>tGt	p.S92C	PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	275	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGATCGGGGACT	0.617000													219	783					0	0	1	0	0
MED20	9477	broad.mit.edu	37	6	41884614	41884614	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41884614C>T	ENST00000265350.4	-	2	158	c.78G>A	c.(76-78)cgG>cgA	p.R26R	MED20_ENST00000409060.1_Silent_p.R26R|MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	26					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCAATTTCCGGGTAAGGA	0.537000													18	62					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958310	40958310	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40958310C>T	ENST00000313164.9	+	11	1795	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	479	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.P479Q(1)					Ovarian(839;0.0112)				CATTGCAAACCGTACACATTT	0.507000													4	153					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627904	46627904	+	Translation_Start_Site	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:46627904C>T	ENST00000341415.2	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	1						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ATCGTGGCCTCATGCTTCCAA	0.463000													19	79					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47346191	47346191	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:47346191A>C	ENST00000405573.2	+	13	1428	c.1215A>C	c.(1213-1215)caA>caC	p.Q405H	MADD_ENST00000395336.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000407859.3_Intron			Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	0					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAATGTCCAAGCCCCCAGTA	0.582000													7	5					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271069	140271069	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:140271069C>T	ENST00000370526.2	-	1	241	c.138G>A	c.(136-138)ccG>ccA	p.P46P	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	46					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGCAGCTCGGCGGACGTACCT	0.642000													37	8					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687004	68687004	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:68687004A>C	ENST00000361320.4	+	2	908	c.330A>C	c.(328-330)agA>agC	p.R110S	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	110						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAATACGCAGACTCAAAGAGC	0.368000													25	188					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15506632	15506632	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15506632C>G	ENST00000380733.4	-	3	419	c.76G>C	c.(76-78)Gac>Cac	p.D26H	PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	26	PWWP.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGAACTTCGTCTACCTAAAAG	0.348000													29	51					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411022	5411022	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:5411022T>C	ENST00000328611.3	+	1	416	c.394T>C	c.(394-396)Ttt>Ctt	p.F132L	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	132						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGTCCTTTGACCGCCT	0.502000													81	171					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766140	18766140	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:18766140C>T	ENST00000304081.4	-	4	463	c.363G>A	c.(361-363)gcG>gcA	p.A121A	NT5C1B_ENST00000359846.2_Silent_p.A181A|NT5C1B_ENST00000600945.1_Silent_p.A181A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A181A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGGGGCGACGCGGGTGGCT	0.716000													8	21					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111681115	111681115	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:111681115C>T	ENST00000374647.5	-	8	1023	c.716G>A	c.(715-717)gGa>gAa	p.G239E	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	239					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	p.G239E(1)		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						TGGTCCCAGTCCTGCCACAGG	0.522000													12	71					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948606	7948606	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7948606C>T	ENST00000380183.4	+	7	1039	c.900C>T	c.(898-900)acC>acT	p.T300T	ALOX15B_ENST00000572022.1_Silent_p.T300T|ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000380173.2_Silent_p.T300T	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	300	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCATCCAGACCAATGTCATTA	0.567000													58	58					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103987522	103987522	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:103987522C>A	ENST00000394785.3	-	3	864	c.233G>T	c.(232-234)tGc>tTc	p.C78F	SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	78					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATGTGGAGGGCAAGCCAGCAT	0.383000													107	103					2.15005e-58	2.5855e-58	1	1	0
GOLGA1	2800	broad.mit.edu	37	9	127674281	127674281	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:127674281C>G	ENST00000373555.4	-	11	1201	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	290						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ATAACGTCTTCTTTCTCTTGA	0.443000													30	81					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564553	176564553	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:176564553A>G	ENST00000367662.3	+	3	2977	c.1813A>G	c.(1813-1815)Aca>Gca	p.T605A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	605	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACCCACTCACAGGCTATGA	0.587000													15	67					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988690	98988690	+	Silent	SNP	C	C	T	rs138310411		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:98988690C>T	ENST00000451682.1	+	8	984	c.675C>T	c.(673-675)acC>acT	p.T225T	ARPC1B_ENST00000252725.5_Silent_p.T225T			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	225					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACGACAGCACCGTCTGCCTGG	0.622000													22	32					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGTGGCGGCGACGTTCGCC	0.642000													16	79					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140637884	140637884	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:140637884C>T	ENST00000460843.1	+	5	912	c.885C>T	c.(883-885)acC>acT	p.T295T	EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	295					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAATGGGAACCTATAGCCTGG	0.383000													21	66					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235604	170235604	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:170235604G>A	ENST00000518525.1	+	9	1144	c.679_splice	c.e9-1	p.G227_splice	GABRP_ENST00000519385.1_Splice_Site_p.G227_splice|GABRP_ENST00000265294.4_Splice_Site_p.G227_splice|GABRP_ENST00000519598.1_Splice_Site_p.G227_splice			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	227						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCCTTTCAGGAAATTACACT	0.403000													19	47					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85486741	85486741	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:85486741C>T	ENST00000394573.1	+	16	1849	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.I549I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000538177.1_Silent_p.I383I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	549					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCATTGGGATCATGCTGGGAG	0.522000													15	75					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57490672C>T	ENST00000300134.3	-	21	2640	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	772					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642000													48	47					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													4	113					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106840686	106840686	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:106840686T>C	ENST00000276185.4	+	15	1676	c.1676T>C	c.(1675-1677)gTc>gCc	p.V559A				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	559						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTGAGCTTGTCAGCTTCTGC	0.582000													17	42					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130305488	130305488	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:130305488G>A	ENST00000358511.6	+	10	4140	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1370	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTGGAAGCCGGCTGTCAAAG	0.373000													36	67					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464576	141464576	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464576C>T	ENST00000247879.2	+	1	680	c.618C>T	c.(616-618)tcC>tcT	p.S206S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCATCTTCTCCCTGGGGAGGC	0.517000													36	126					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203693718	203693718	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:203693718C>T	ENST00000392237.2	-	3	172	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	5										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTGGGTTGCCCAAAGGAAT	0.383000													44	113					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133041131	133041131	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:133041131C>G	ENST00000253861.4	+	6	840	c.811C>G	c.(811-813)Cca>Gca	p.P271A	EXOC4_ENST00000539845.1_Missense_Mutation_p.P170A|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	271					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGAATTGGATCCAGAGGAAAA	0.398000													7	170					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032436	163032436	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:163032436C>G	ENST00000306100.5	-	2	549	c.113G>C	c.(112-114)aGa>aCa	p.R38T	FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T|FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	38						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGTCGCAATCTCATTAGAGG	0.403000													66	65					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	360043	360043	+	Missense_Mutation	SNP	C	C	T	rs36045489		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:360043C>T	ENST00000262320.3	-	4	1417	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTGCTTACGGATCCTGTA	0.612000													5	22					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762251	92762251	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:92762251C>T	ENST00000318238.4	-	5	4250	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1012										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATTCAATGCAATTTGACAT	0.363000													77	115					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40690691	40690691	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:40690691C>T	ENST00000225927.2	+	4	783	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	228						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTCCAGCACCGGGTCCTGGA	0.627000													16	69					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70119806	70119806	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:70119806T>A	ENST00000245479.2	+	3	1180	c.808T>A	c.(808-810)Ttc>Atc	p.F270I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	270					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCTATCGACTTCCGCGACGT	0.647000													76	66					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546292	112546292	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:112546292T>C	ENST00000488794.1	-	5	878	c.289A>G	c.(289-291)Act>Gct	p.T97A	CD200R1L_ENST00000398214.1_Missense_Mutation_p.T118A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	118	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CCGTCATGAGTGGTGTCCACC	0.463000													152	137					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169345982	169345982	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:169345982C>G	ENST00000367808.3	+	3	656	c.233C>G	c.(232-234)gCt>gGt	p.A78G	BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G|BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	78					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGTTAAAGCTGTAAGAATA	0.403000													30	77					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737575	216737575	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:216737575G>A	ENST00000391890.3	-	7	1317	c.800C>T	c.(799-801)gCg>gTg	p.A267V	ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A283V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	283					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATATGCTTCGCCCATCCAAT	0.418000													27	66					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040113	43040113	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:43040113A>C	ENST00000314890.3	-	2	1455	c.36T>G	c.(34-36)gcT>gcG	p.A12A		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	12							receptor activity										CGGAATCCCAAGCCCGCTTCA	0.562000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	88					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148346651	148346651	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:148346651C>T	ENST00000369202.1	-	2	303	c.106G>A	c.(106-108)Gga>Aga	p.G36R	NBPF20_ENST00000414710.2_Missense_Mutation_p.G36R					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TTGAGGTTTCCGAACTGCTGT	0.483000													23	264					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43129789	43129789	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:43129789T>C	ENST00000342374.4	-	9	1365	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C|SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	403						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGAGTAGCTATACTGCACTCC	0.512000													58	44					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464575	141464575	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:141464575C>T	ENST00000247879.2	+	1	679	c.617C>T	c.(616-618)tCc>tTc	p.S206F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	206					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTCATCTTCTCCCTGGGGAGG	0.517000													36	126					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124811994	124811994	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:124811994C>T	ENST00000356219.3	-	46	7320	c.7165G>A	c.(7165-7167)Gct>Act	p.A2389T	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2372T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2382T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1943T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2393					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCGTCAGCAGCGGTTATGGGC	0.637000													5	118					0	0	1	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594503	45594503	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:45594503T>G	ENST00000361121.2	+	7	779	c.744T>G	c.(742-744)gaT>gaG	p.D248E	RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_Missense_Mutation_p.D78E|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D248E			Q8IXQ4	K1704_HUMAN		248										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GTAAGAAAGATGAAGAACATA	0.333000													26	98					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25672188	25672188	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25672188A>G	ENST00000281589.3	+	1	1889	c.1852A>G	c.(1852-1854)Acc>Gcc	p.T618A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	618					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.T618A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAAAGAGGCTACCCAGAAAGC	0.408000													12	194					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528525	65528525	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:65528525G>T	ENST00000310193.3	-	3	746	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	191					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTGTAAATGTGATCTCAAATA	0.323000													8	67					0.000442599	0.000453744	1	1	0
F3	2152	broad.mit.edu	37	1	95005817	95005817	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:95005817T>C	ENST00000334047.7	-	2	371	c.208A>G	c.(208-210)Ata>Gta	p.I70V	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	70					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GCTTACCTTATTTGAACAGTG	0.348000													57	26					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179439330	179439330	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:179439330C>T	ENST00000263966.3	+	8	1512	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	USP13_ENST00000496897.1_Silent_p.L282L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	347					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GCTGCTATCTCAGCTCTGTCA	0.567000													13	146					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21744171	21744171	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:21744171G>A	ENST00000328843.6	+	39	6445	c.6414G>A	c.(6412-6414)aaG>aaA	p.K2138K	DNAH11_ENST00000409508.3_Silent_p.K2131K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2138					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAGGAGGAAGCTGCACTTTG	0.527000									Kartagener syndrome				14	29					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406956	105406956	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:105406956A>C	ENST00000333244.5	-	7	14951	c.14832T>G	c.(14830-14832)gcT>gcG	p.A4944A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4944						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)			CTTCGTGGTCAGCATCTTCAG	0.552000													14	72					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77576297	77576297	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:77576297C>T	ENST00000361786.2	+	3	596	c.279C>T	c.(277-279)gtC>gtT	p.V93V	KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.V93V|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	93										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CTCCCATGGTCGTCATGAAGA	0.473000													15	96					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	24					3.45872e-05	3.59757e-05	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155099238	155099238	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:155099238A>G	ENST00000392825.3	+	6	1073	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTAGAGAATTACGTGAAAAAT	0.348000													15	55					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940316	113940316	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:113940316G>A	ENST00000245796.6	+	2	478	c.283G>A	c.(283-285)Gac>Aac	p.D95N	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D95N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	95					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGGGCCACTGACCCTCCTGA	0.642000													14	44					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542340	32542340	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:32542340G>C	ENST00000360538.2	-	3	2299	c.2183C>G	c.(2182-2184)gCt>gGt	p.A728G	TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	728	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGAATAATGAGCTCTGGACAG	0.378000													49	104					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921802	5921802	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:5921802C>G	ENST00000399933.3	-	8	4193	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K1368N	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1398	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAATAGAGGACTTCAAGGGAG	0.403000													37	54					0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383944	219383944	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:219383944A>G	ENST00000366928.5	+	4	479	c.432A>G	c.(430-432)gtA>gtG	p.V144V	LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	144						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TGGCAGGAGTATTTGCTCTTT	0.299000													37	31					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31589782	31589782	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:31589782C>T	ENST00000379416.3	-	21	2324	c.2276G>A	c.(2275-2277)gGg>gAg	p.G759E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	759					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCCATCTCCCCTGCCTCGCC	0.552000													32	142					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980081	75980081	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:75980081C>T	ENST00000308508.5	-	3	3417	c.3325G>A	c.(3325-3327)Gac>Aac	p.D1109N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1109	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGTTGCCCGTCGGACACCTGC	0.657000													21	75					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128712308	128712308	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:128712308T>C	ENST00000392664.2	-	1	121	c.5A>G	c.(4-6)aAt>aGt	p.N2S	KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000324036.3_Intron	NM_000220.4	NP_000211.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	2					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACTGGAAGCATTCATGGCTGG	0.448000													13	46					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47980089	47980089	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:47980089G>T	ENST00000338134.3	-	10	1077	c.970C>A	c.(970-972)Cca>Aca	p.P324T	KPTN_ENST00000536339.1_Missense_Mutation_p.P84T	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	324					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGACTTCTGGCCGCCCATCC	0.622000													4	7					1.23904e-05	1.2935e-05	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415986	86415986	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415986C>A	ENST00000361669.2	+	3	1977	c.878C>A	c.(877-879)gCc>gAc	p.A293D	GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGCGCCAATGCCTCCTTCACC	0.672000													47	92					1.83081e-24	2.12106e-24	1	1	0
STRAP	11171	broad.mit.edu	37	12	16048404	16048404	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:16048404A>G	ENST00000419869.2	+	6	925	c.612A>G	c.(610-612)cgA>cgG	p.R204R	STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	204					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CTTATGGACGATCTATTGCTT	0.313000													46	92					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92008515	92008515	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:92008515G>A	ENST00000450295.1	-	7	1246	c.470C>T	c.(469-471)cCc>cTc	p.P157L	SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	157	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGGTCAAAGGGACATCTTCC	0.428000													31	66					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74779668	74779668	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:74779668C>T	ENST00000264094.3	-	2	165	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	32						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TTCTCAGGGCCCGTGGAAGGG	0.677000													15	31					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539795	94539795	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94539795A>G	ENST00000289495.5	+	1	586	c.370A>G	c.(370-372)Att>Gtt	p.I124V	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.I124V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.I124V	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	124	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTGAACGAATTAGTAGATT	0.403000										HNSCC(28;0.073)			25	199					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140013	158140013	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:158140013A>T	ENST00000313708.6	-	13	1616	c.1334T>A	c.(1333-1335)gTg>gAg	p.V445E	EBF1_ENST00000517373.1_Missense_Mutation_p.V437E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V414E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	445					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGACATTCACGGCCAGTTG	0.542000			T	HMGA2	lipoma								4	78					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90021381	90021381	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:90021381A>G	ENST00000405460.2	+	48	10165	c.10069A>G	c.(10069-10071)Att>Gtt	p.I3357V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3357					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACAATCATTATTCTGGAAAG	0.343000													23	48					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480447	25480447	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:25480447C>T	ENST00000381884.4	-	7	1914	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	577					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AACAAAAATTCATCTAATTCC	0.343000													14	57					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74989534	74989534	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:74989534C>A	ENST00000261978.4	-	16	3004	c.2618G>T	c.(2617-2619)aGc>aTc	p.S873I	LTBP2_ENST00000556690.1_Missense_Mutation_p.S873I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	873	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGCCAGGGCTGCAGACACA	0.617000													6	33					0.00307968	0.00313467	1	1	0
GBP3	2635	broad.mit.edu	37	1	89474782	89474782	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:89474782T>C	ENST00000370481.4	-	10	1727	c.1507A>G	c.(1507-1509)Atg>Gtg	p.M503V		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	503						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCTCCACCATTTTTGCTGAA	0.388000													7	97					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053550	21053550	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21053550A>G	ENST00000339486.3	+	8	1590	c.973A>G	c.(973-975)Atc>Gtc	p.I325V	RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V|RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	325	Protein kinase.			I -> H (in Ref. 1; AAC26080).	chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACGTAAGATCATCCGCATGTG	0.323000													29	16					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966643	132966643	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:132966643C>T	ENST00000275216.1	-	1	499	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	167						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CTCTTCAGCGCCTTTGAAGTT	0.373000													39	55					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89010583	89010583	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:89010583A>G	ENST00000312475.4	-	1	67	c.26T>C	c.(25-27)cTg>cCg	p.L9P		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	9						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCCCTAACAGCGTCCGCCT	0.672000													4	3					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071484	16071484	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:16071484C>G	ENST00000352083.6	-	11	1329	c.1251_splice	c.e11-1	p.D418_splice	SOX6_ENST00000528429.1_Splice_Site_p.D418_splice|SOX6_ENST00000528252.1_Splice_Site_p.D377_splice|SOX6_ENST00000396356.3_Splice_Site_p.D418_splice|SOX6_ENST00000527619.1_Splice_Site_p.D380_splice|SOX6_ENST00000316399.6_Splice_Site_p.D418_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	418					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCTGCTTCATCCTACAAGAGT	0.443000													10	138					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76558166	76558166	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:76558166A>G	ENST00000369981.3	+	11	1275	c.996A>G	c.(994-996)gaA>gaG	p.E332E	MYO6_ENST00000369977.3_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369975.1_Silent_p.E332E			Q9UM54	MYO6_HUMAN	myosin VI	332	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGGATGATGAAGAAAAGCTTG	0.403000													41	85					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180230	124180230	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:124180230C>G	ENST00000357821.2	-	1	503	c.433G>C	c.(433-435)Gtg>Ctg	p.V145L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCCAGCACTAGCAGTGAG	0.473000													17	15					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118176728	118176728	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:118176728G>T	ENST00000304058.4	-	6	653	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K	DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K|DTWD2_ENST00000510708.1_Missense_Mutation_p.Q261K			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	261										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGGCGAATTTGGGCACCATGC	0.383000													15	34					2.23348e-06	2.40205e-06	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25339085	25339085	+	RNA	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:25339085G>A	ENST00000546682.1	+	0	1074				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CATATGTGGCGTGGGCTTCTT	0.512000													13	46					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12616300	12616300	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:12616300T>C	ENST00000170447.7	+	5	789	c.652T>C	c.(652-654)Ttg>Ctg	p.L218L	MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	218	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GATCTGCATGTTGACGTTCGA	0.552000													68	35					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912155	87912155	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87912155C>T	ENST00000380079.4	-	3	886	c.785G>A	c.(784-786)gGt>gAt	p.G262D	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G262D|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	262	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AGCAATAACACCAGGGAGGTA	0.433000													51	131					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406588	7406588	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7406588A>G	ENST00000322644.6	+	17	3304	c.2905A>G	c.(2905-2907)Atc>Gtc	p.I969V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	969					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTCAGGGTCATCTTCCCAAC	0.597000													22	69					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57758661	57758661	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:57758661T>A	ENST00000269122.3	+	20	3345	c.3071T>A	c.(3070-3072)cTg>cAg	p.L1024Q	CLTC_ENST00000393043.1_Missense_Mutation_p.L1024Q|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1024	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAAAGGAATCTGCAAAACCTC	0.348000			T	"""ALK, TFE3"""	"""ALCL, renal """								4	168					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166279	151166279	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:151166279C>A	ENST00000282466.3	-	4	1489	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	497	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGGCCTGGGCAGTTCAGGCC	0.493000													61	288					1.22119e-34	1.44415e-34	1	1	0
PCDHB17P	54661	broad.mit.edu	37	5	140537133	140537133	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:140537133G>A	ENST00000539533.1	+	1	1557	c.1557G>A	c.(1555-1557)tcG>tcA	p.S519S																								CCCTCAGGTCGCTGGACTACG	0.667000													6	188					0	0	1	0	0
TMEM116	89894	broad.mit.edu	37	12	112369503	112369503	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112369503C>T	ENST00000354825.3	-	13	1315	c.660G>A	c.(658-660)caG>caA	p.Q220Q	TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000550831.3_Silent_p.Q220Q			Q8NCL8	TM116_HUMAN	transmembrane protein 116	220						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AGAATCTCTTCTGTGAGCATA	0.448000													59	97					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98164960	98164960	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:98164960C>T	ENST00000370192.3	-	6	727	c.627G>A	c.(625-627)ttG>ttA	p.L209L	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	209					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGAGTACCCCAATCGAGCCA	0.393000													4	116					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940148	31940148	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:31940148T>A	ENST00000375331.2	+	2	456	c.290T>A	c.(289-291)cTc>cAc	p.L97H	STK19_ENST00000375333.2_Missense_Mutation_p.L97H	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	97						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TTCTCTTCCCTCCATTCCTAC	0.572000													23	65					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92645569	92645569	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:92645569A>G	ENST00000413330.1	+	6	378	c.342_splice	c.e6-1	p.I115_splice	RPP30_ENST00000371703.3_Splice_Site_p.I115_splice	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	115					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTCTTTACAGATTGCTTGCAC	0.353000													17	41					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445592	29445592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:29445592C>T	ENST00000544604.2	+	8	1598	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	475						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTACTACTTCCAGGGCCTCAG	0.667000													9	78					0	0	1	0	0
STH	246744	broad.mit.edu	37	17	44076712	44076712	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:44076712G>T	ENST00000537309.1	+	1	97	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	23						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						caggtggccggccctcattga	0.542000													18	53					5.3912e-06	5.71187e-06	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18070934	18070934	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:18070934A>T	ENST00000205890.5	+	62	10317	c.9979A>T	c.(9979-9981)Agc>Tgc	p.S3327C	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3327	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGACTCTTCAGCAGTGTGCC	0.667000													8	46					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81339548	81339548	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:81339548A>T	ENST00000222390.5	-	13	1682	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	HGF_ENST00000457544.2_Missense_Mutation_p.S481T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	486					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGGCACAAGATATTACGGGA	0.313000													61	87					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200410	100200410	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:100200410G>A	ENST00000547776.2	-	4	440	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.L147L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	147						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCTTCTAGGAGAACAGCAA	0.418000													8	44					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164758727	164758727	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:164758727C>T	ENST00000264382.3	-	18	2222		c.e18+1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTACTCACTCATGAAGAA	0.318000										HNSCC(35;0.089)			156	174					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135113043	135113043	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135113043C>T	ENST00000368563.2	-	4	700	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S115N	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	115					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTGGTACTGCTGCCCACAGC	0.552000													41	37					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121544496	121544496	+	Silent	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:121544496A>C	ENST00000275159.6	-	21	2366	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.S789S					TBC1 domain family, member 32																		GTGCTAAAAAAGACTAGAGGG	0.358000													7	145					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415985	86415985	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:86415985G>A	ENST00000361669.2	+	3	1976	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	293					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCGCGCCAATGCCTCCTTCAC	0.672000													49	92					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89967693	89967693	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:89967693C>A	ENST00000402938.3	-	9	1227	c.1094G>T	c.(1093-1095)tGc>tTc	p.C365F	GABRR2_ENST00000602399.1_Missense_Mutation_p.C390F			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	390					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TCCACACATGCACGGGAACTA	0.532000													6	25					2.7689e-08	3.02351e-08	1	1	0
KRT5	3852	broad.mit.edu	37	12	52913888	52913888	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52913888G>T	ENST00000252242.4	-	1	583	c.193C>A	c.(193-195)Ctc>Atc	p.L65I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	65	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTTGTAGAGGCTCCGGCTG	0.642000													60	84					5.19286e-32	6.11556e-32	1	1	0
APP	351	broad.mit.edu	37	21	27284224	27284224	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:27284224T>C	ENST00000358918.3	-	14	1937	c.1738A>G	c.(1738-1740)Atg>Gtg	p.M580V	APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000346798.3_Missense_Mutation_p.M580V|APP_ENST00000359726.3_Missense_Mutation_p.M524V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000440126.3_Missense_Mutation_p.M556V	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	580					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCACTAATCATGTTGGCCAAG	0.443000													79	49					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22279896	22279896	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:22279896T>A	ENST00000397495.4	-	7	1130	c.1031A>T	c.(1030-1032)aAg>aTg	p.K344M	PPM1F_ENST00000263212.5_Intron|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000538191.1_Intron			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	0					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGGCCTGGGCTTCCGAGAGAC	0.632000													12	41					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202524	53202524	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:53202524G>A	ENST00000551956.1	-	5	1437	c.945C>T	c.(943-945)taC>taT	p.Y315Y	KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y			B4DRS2	B4DRS2_HUMAN	keratin 4	315						keratin filament	structural molecule activity	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAATCTCCTCGTACTGGGCAC	0.592000													29	121					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:15723736A>G	ENST00000380701.3	+	13	1811	c.1483A>G	c.(1483-1485)Aat>Gat	p.N495D	CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	495			N -> I (in dbSNP:rs10962127).														TCACACTAAAAATATAAAGGT	0.274000													18	32					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175140	143175140	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:143175140C>A	ENST00000408916.1	+	1	175	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	59					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCTGCCTGCAGTTGGTTGG	0.567000													76	125					1.36236e-49	1.6314e-49	1	1	0
HIST1H4E	8367	broad.mit.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	A	rs145407769	byFrequency	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26205070G>A	ENST00000360441.4	+	1	213	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567000													54	56					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067594	46067594	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:46067594G>T	ENST00000295452.4	-	4	496	c.329C>A	c.(328-330)aCa>aAa	p.T110K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	110					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TATATCTATTGTATATTCCTA	0.274000													12	7					0.00010058	0.000103485	1	1	0
VEPH1	79674	broad.mit.edu	37	3	157178057	157178057	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:157178057T>A	ENST00000362010.2	-	4	749	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	VEPH1_ENST00000392833.2_Missense_Mutation_p.M148L|VEPH1_ENST00000543418.1_Missense_Mutation_p.M148L|VEPH1_ENST00000494677.1_Missense_Mutation_p.M148L|VEPH1_ENST00000468233.1_Missense_Mutation_p.M148L|VEPH1_ENST00000537559.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392832.2_Missense_Mutation_p.M148L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	148						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGTTAGACATATTCCTGCAC	0.463000													44	148					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	52					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145622721	145622721	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:145622721C>T	ENST00000349769.3	-	22	2460	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	789					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.R789L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCATTCTCCCGCACCAGCAG	0.672000													15	19					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880597	12880597	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:12880597G>T	ENST00000155926.4	+	3	2128	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	237	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCAGCCGACGTGTGGAGCCT	0.587000													32	53					1.74807e-11	1.93852e-11	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178376	65178376	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:65178376A>C	ENST00000310045.7	-	2	4973	c.3500T>G	c.(3499-3501)aTa>aGa	p.I1167R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1157						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCAAACAATATTTGGTTTAA	0.363000													24	70					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72003134	72003134	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:72003134C>T	ENST00000257515.8	+	10	1337	c.917C>T	c.(916-918)gCa>gTa	p.A306V	FAM189A2_ENST00000303068.7_Missense_Mutation_p.A141V|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A306V|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000377216.3_Missense_Mutation_p.A93V	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	306						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATCTGGCTGCAGTGACTCTG	0.532000													17	35					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271319	1271319	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:1271319G>A	ENST00000308624.5	+	14	1389	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	SNTG2_ENST00000407292.1_Silent_p.T293T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	420	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAGAGCCACGTTCATGGAAG	0.527000													11	41					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78205149	78205149	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:78205149C>A	ENST00000261531.7	-	5	567	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	SNW1_ENST00000555761.1_Missense_Mutation_p.D169Y|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.D7Y	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	169					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCCAATTTGTCAGCTGCTCGA	0.423000													12	130					9.31168e-06	9.829e-06	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193289	132193289	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:132193289A>G	ENST00000359827.3	-	2	1126	c.164T>C	c.(163-165)gTg>gCg	p.V55A	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A			Q9HCM2	PLXA4_HUMAN	plexin A4	55	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCATCCACCACCAGGTGATT	0.587000													12	122					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698545	79698545	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:79698545T>A	ENST00000538312.1	+	5	841	c.507T>A	c.(505-507)ttT>ttA	p.F169L	FAM46D_ENST00000308293.5_Missense_Mutation_p.F169L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	169										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACGGCAGTTTGAATTTAGTG	0.378000													50	16					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135086790	135086790	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:135086790G>A	ENST00000445355.3	-	6	591	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W|ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	142					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTGCCGTCCGGGGTCCCAGG	0.711000													8	6					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60695932	60695932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:60695932C>G	ENST00000335712.6	-	3	649	c.422G>C	c.(421-423)cGt>cCt	p.R141P	BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	141	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ATGTGCAGAACGAGGGGAGGA	0.473000			T	IGH@	B-CLL								10	65					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118623574	118623574	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:118623574C>T	ENST00000354673.2	-	8	1152	c.772G>A	c.(772-774)Gca>Aca	p.A258T	IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000441144.2_Missense_Mutation_p.A234T|IGSF11_ENST00000393775.2_Missense_Mutation_p.A259T|IGSF11_ENST00000489689.1_Missense_Mutation_p.A235T|IGSF11_ENST00000425327.2_Missense_Mutation_p.A258T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	259					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAATTAGTGCAATGCAAAAA	0.338000													6	378					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28766125	28766125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:28766125G>A	ENST00000422425.2	+	14	1003	c.959G>A	c.(958-960)tGg>tAg	p.W320*	PLB1_ENST00000327757.5_Nonsense_Mutation_p.W309*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	309	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCATCTCTGGAATAGGATG	0.617000													11	11					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543308	23543308	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:23543308G>T	ENST00000300619.7	-	4	2678	c.2473C>A	c.(2473-2475)Ccc>Acc	p.P825T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.403000													17	71					6.94344e-10	7.67008e-10	1	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217505	26217505	+	Silent	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:26217505G>C	ENST00000303910.2	+	1	341	c.303G>C	c.(301-303)gtG>gtC	p.V101V		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	101					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGGTCGCGTGACCATCGCGC	0.577000													39	48					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54135361	54135361	+	Translation_Start_Site	SNP	A	A	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54135361A>C	ENST00000376650.1	+	1	52	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GGATTAGAAGATGCCAGGCTC	0.502000													69	118					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405939	20405939	+	RNA	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:20405939G>A	ENST00000580113.1	-	0	924																											TCCAGGCCCTGGAACACCCTC	0.582000													9	21					0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58040503	58040503	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:58040503A>G	ENST00000305783.8	-	2	254	c.199T>C	c.(199-201)Ttg>Ctg	p.L67L	RNFT1_ENST00000442346.2_Silent_p.L30L|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	67						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCTCCTGTCAATCTTGTGTGG	0.468000													39	84					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88386464	88386464	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:88386464T>C	ENST00000418177.2	-	4	1386	c.1019A>G	c.(1018-1020)tAt>tGt	p.Y340C	GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	340					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTCAGATAATAATCATCAAA	0.478000													5	51					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24288852	24288852	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:24288852A>T	ENST00000357002.4	+	2	256	c.141A>T	c.(139-141)agA>agT	p.R47S	ZNF254_ENST00000339642.6_Missense_Mutation_p.R47S|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	47	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAACTACAGAAACCTGGCCT	0.368000													43	189					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872781	55872781	+	Missense_Mutation	SNP	C	C	A	rs137892845		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:55872781C>A	ENST00000313503.1	+	1	263	c.263C>A	c.(262-264)aCt>aAt	p.T88N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T88I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.428000										HNSCC(53;0.14)			35	301					2.28855e-06	2.45201e-06	1	1	0
PSG1	5669	broad.mit.edu	37	19	43376172	43376172	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:43376172G>T	ENST00000244296.2	-	3	593	c.456C>A	c.(454-456)tcC>tcA	p.S152S	PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.S152S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTTGCTGCTGGAGATGGAGG	0.507000													50	303					9.52127e-25	1.11212e-24	1	1	0
ZNF148	7707	broad.mit.edu	37	3	124998000	124998000	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:124998000T>C	ENST00000360647.4	-	6	1036	c.551A>G	c.(550-552)tAt>tGt	p.Y184C	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	184					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTGTAAGTGATAGTTCGTTCT	0.358000													82	139					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505879	178505879	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:178505879C>T	ENST00000315475.6	+	5	752	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	149					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)		ATGATAGATTCGCATGAGAAA	0.393000													26	88					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39186697	39186697	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:39186697A>G	ENST00000273153.5	-	3	433	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	86					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						ATCCCATCAAAGGCTACACGG	0.607000													18	37					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41330595	41330595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:41330595G>A	ENST00000551295.2	+	10	1115	c.998G>A	c.(997-999)tGg>tAg	p.W333*	CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	333	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCCCTGAGTGGGTAGAACAC	0.413000													17	95					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45658390	45658390	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:45658390C>T	ENST00000267430.5	+	20	5250	c.5165C>T	c.(5164-5166)cCa>cTa	p.P1722L	FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1722					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGTTCTACTCCAAGAGTTAAT	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				53	194					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	338					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	54					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78618173	78618173	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:78618173G>C	ENST00000434584.2	-	3	661	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	ITM2A_ENST00000373298.2_Missense_Mutation_p.L153V|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	153						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACAAGTCCAGGTAAGCAGTC	0.438000													27	5					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397279	57397279	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:57397279G>C	ENST00000300101.2	-	2	1508	c.1423C>G	c.(1423-1425)Cta>Gta	p.L475V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCAAGTTTAGATGGTCAAGG	0.562000													9	53					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285198	62285198	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:62285198G>C	ENST00000378024.4	-	5	16965	c.16691C>G	c.(16690-16692)cCa>cGa	p.P5564R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5564	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGATTTTTGGGCCCTTCAA	0.517000													14	210					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929861	156929861	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:156929861C>A	ENST00000257527.4	-	12	1336	c.1258G>T	c.(1258-1260)Ggg>Tgg	p.G420W	ADAM19_ENST00000394020.1_Missense_Mutation_p.G422W|ADAM19_ENST00000430702.2_Missense_Mutation_p.G153W|ADAM19_ENST00000517905.1_Missense_Mutation_p.G420W	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	420	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TACCCGTTCCCACACCTCCGG	0.532000													35	116					4.11147e-13	4.59518e-13	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3392051	3392051	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:3392051G>T	ENST00000324266.5	+	2	852	c.657G>T	c.(655-657)ttG>ttT	p.L219F	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	219							binding										GCCACTCCTTGGCCTCGGACT	0.706000													28	34					2.20474e-14	2.47382e-14	1	1	0
KBTBD12	166348	broad.mit.edu	37	3	127682212	127682212	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:127682212G>A	ENST00000405109.1	+	5	2140	c.1673G>A	c.(1672-1674)gGg>gAg	p.G558E	KBTBD12_ENST00000405256.1_Missense_Mutation_p.G558E|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G165E|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.G133E			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	558										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGTCTGCGGGGGATTCCAT	0.488000													8	33					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220813	118220813	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:118220813A>T	ENST00000402510.2	-	11	4379	c.4380T>A	c.(4378-4380)aaT>aaA	p.N1460K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1460										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATGCTGGTTATTATTACCAT	0.443000													20	36					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65026924	65026924	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:65026924G>C	ENST00000394156.3	-	5	990	c.537C>G	c.(535-537)atC>atG	p.I179M	CDH11_ENST00000268603.4_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	179	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTCACCTGGATTACTGACG	0.368000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			30	59					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172166087	172166087	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687000													5	82					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222892303	222892303	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:222892303G>A	ENST00000340934.5	+	3	544	c.138G>A	c.(136-138)ctG>ctA	p.L46L	BROX_ENST00000539697.1_Silent_p.L46L|BROX_ENST00000537020.1_Silent_p.L46L	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	46						membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCCTTGAACTGTTCACTGATT	0.358000													33	132					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541831	70541831	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:70541831T>C	ENST00000310961.5	+	24	4480	c.4062T>C	c.(4060-4062)taT>taC	p.Y1354Y	LRRC7_ENST00000035383.5_Silent_p.Y1396Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1396						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCAGCCGTATGAAGGAAATA	0.542000													48	26					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20769240	20769240	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:20769240G>T	ENST00000359062.3	+	4	1386	c.1346G>T	c.(1345-1347)gGt>gTt	p.G449V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCGGCCACAGGTCTACCCACC	0.562000													17	104					3.32936e-07	3.59419e-07	1	1	0
RAB5A	5868	broad.mit.edu	37	3	20017551	20017551	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:20017551A>T	ENST00000273047.4	+	4	864	c.328A>T	c.(328-330)Aga>Tga	p.R110*	RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96*	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	110					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						GTCCTTTGCAAGAGCAAAAAA	0.403000													16	31					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003611	92003611	+	RNA	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:92003611A>G	ENST00000385233.2	+	0	44					NR_029508.1																						GTGTTTCTGTATGGTATTGCA	0.408000													125	43					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53612343G>C	ENST00000455735.2	-	7	1419	c.1099C>G	c.(1099-1101)Cag>Gag	p.Q367E	ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q319E			Q09FC8	ZN415_HUMAN	zinc finger protein 415	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418000													28	111					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119107	25119107	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr22:25119107T>C	ENST00000332271.5	-	19	2790	c.2374A>G	c.(2374-2376)Agg>Ggg	p.R792G	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674G|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674G	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTCATTCCTAGTCAACTCT	0.343000													4	149					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147662	43147662	+	RNA	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:43147662C>T	ENST00000522175.2	+	0	37							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGGCTGCCTCCCCTATGAAG	0.562000													25	48					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617831	100617831	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:100617831G>A	ENST00000267294.4	-	2	2025	c.1792C>T	c.(1792-1794)Ccc>Tcc	p.P598S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	598					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGGACAAGGGGGCGCCCACT	0.612000													25	92					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793208	53793208	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53793208C>T	ENST00000426466.1	-	1	1667	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	140					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TATAGTTGCTCCCAGATGTTT	0.378000													38	218					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38103844	38103844	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38103844G>A	ENST00000592533.1	+	5	1995	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	ZNF540_ENST00000316433.4_Missense_Mutation_p.E555K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E523K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E555K	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACTGTAAAGAATGTGGGAA	0.388000													9	162					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160504	38160504	+	Silent	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:38160504T>C	ENST00000358582.4	-	4	1294	c.546A>G	c.(544-546)tcA>tcG	p.S182S	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.S182S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GAGCAATTATTGAATGCTTTG	0.378000													33	153					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50150067	50150067	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:50150067C>T	ENST00000360565.3	+	6	582	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	153					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGTCTCAGGGCCTGGAGGACG	0.632000													11	11					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137329	40137329	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:40137329G>C	ENST00000278198.2	-	2	2477	c.514C>G	c.(514-516)Cct>Gct	p.P172A	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428000													28	73					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840568	20840568	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:20840568C>T	ENST00000406618.3	-	3	591	c.571G>A	c.(571-573)Gca>Aca	p.A191T	HS1BP3_ENST00000402541.1_Intron|HS1BP3_ENST00000304031.3_Intron			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	0					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTTCTGCCCACCATCCA	0.627000													7	11					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634747	79634747	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:79634747C>A	ENST00000376708.1	+	1	177	c.177C>A	c.(175-177)aaC>aaA	p.N59K		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	59					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCTGGCAGAACAGCCTGCGCC	0.612000													27	14					1.5548e-18	1.78677e-18	1	1	0
SALL3	27164	broad.mit.edu	37	18	76753744	76753744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:76753744C>T	ENST00000536229.3	+	1	2063	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	SALL3_ENST00000537592.2_Nonsense_Mutation_p.Q585*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q585*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGTCCCCACAGTCGCTCCT	0.746000													3	17					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358000													23	101					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575387	49575387	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:49575387C>T	ENST00000244051.1	+	1	25	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	3					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GCCATGGCTTCCCGGGAGGAG	0.522000													25	69					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713811	150713811	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:150713811G>A	ENST00000377974.2	-	11	2460	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.L281L			Q674R7	ATG9B_HUMAN	autophagy related 9B	796					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGCAAGGAGGCTGGCTG	0.652000													11	47					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325430	31325430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:31325430C>T	ENST00000269197.5	+	12	5618	c.5618C>T	c.(5617-5619)cCa>cTa	p.P1873L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1873					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						CACAGCCAGCCATTTAAGCAA	0.488000													129	123					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94176486	94176486	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:94176486A>T	ENST00000297273.4	+	13	1999	c.1713_splice	c.e13+1	p.Q571_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATATTCTCAGGTTTGTACA	0.279000													54	95					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949798	45949798	+	Missense_Mutation	SNP	C	C	A	rs146216896		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:45949798C>A	ENST00000323084.4	-	5	738	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	225					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTGGGGTGGCGTCTGAGCCC	0.672000													7	25					1.12685e-05	1.18071e-05	1	1	0
UBE3B	89910	broad.mit.edu	37	12	109921470	109921470	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:109921470C>T	ENST00000342494.3	+	3	709	c.114C>T	c.(112-114)gcC>gcT	p.A38A	UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	38	IQ.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATCCAGGCCCATGTCCGGA	0.537000													46	94					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518618	93518618	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr13:93518618G>A	ENST00000377067.3	+	8	2017	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	549						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AACAGGAGCAGGATGTGCAGT	0.438000													100	37					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44286580	44286580	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:44286580C>A	ENST00000329255.3	-	4	1163	c.1060G>T	c.(1060-1062)Ggg>Tgg	p.G354W		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	354					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGCCAGCCCCAGACACACTC	0.682000													24	39					8.24728e-16	9.29042e-16	1	1	0
RBPMS	11030	broad.mit.edu	37	8	30332300	30332300	+	Silent	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:30332300G>C	ENST00000320203.4	+	2	654	c.72G>C	c.(70-72)cgG>cgC	p.R24R	RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R24R	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	24	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	p.R24R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCCAGGTCCGGACCCTATTTG	0.388000													112	60					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036677	57036677	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57036677C>T	ENST00000308031.5	+	5	1374	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCTTCAGCTCGGGTTCATCC	0.413000													46	96					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9808174	9808174	+	Silent	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr17:9808174G>C	ENST00000226193.5	-	1	764	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	108	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCACGTCGTAGAGGGAGAAGG	0.617000													26	97					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565886	33565886	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:33565886C>T	ENST00000389726.3	+	1	2010	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A629V|KIAA1549L_ENST00000321505.4_Intron	NM_012194.2	NP_036326.2			KIAA1549-like																		TGGACAGGTGCAGCCACTAAT	0.507000													8	85					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47662745	47662745	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662745C>T	ENST00000397708.1	-	26	5651	c.5397G>A	c.(5395-5397)acG>acA	p.T1799T	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.T1799T|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1799					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTCCTTCTGCGTCTGCAACC	0.393000													7	96					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45406917	45406917	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:45406917C>T	ENST00000323030.5	+	1	399	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	38					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGCAAGCTTCCTGCTCATCT	0.577000													27	72					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85428535	85428535	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:85428535C>T	ENST00000354566.3	-	4	2631	c.2620G>A	c.(2620-2622)Gta>Ata	p.V874I	SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000528231.1_Intron	NM_206927.2	NP_996810.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	538	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCTTGGTACGCATTCATTT	0.343000													38	95					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125149013	125149013	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:125149013T>C	ENST00000362012.2	+	9	1301		c.e9+2		PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCTGGCCGGGTAAGCCCcaga	0.562000													10	35					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030359	6030359	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:6030359G>A	ENST00000327087.8	-	3	440	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ANO2_ENST00000356134.5_Silent_p.S123S|ANO2_ENST00000546188.1_Silent_p.S123S			Q9NQ90	ANO2_HUMAN	anoctamin 2	127						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCCCATTGGAGACGATAG	0.627000													12	35					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603218	33603218	+	Translation_Start_Site	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:33603218G>A	ENST00000389232.4	+	0	42				RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCGCCGGAGGCTGGGGCACC	0.692000													11	10					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036642	177036642	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:177036642C>A	ENST00000468418.3	+	4	3029	c.939C>A	c.(937-939)gcC>gcA	p.A313A	HOXD3_ENST00000249440.3_Silent_p.A313A|HOXD3_ENST00000410016.1_Silent_p.A313A			P31249	HXD3_HUMAN	homeobox D3	313					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGGCCTGGCCGCCTACACGG	0.692000													5	24					0.014758	0.014915	1	1	0
ZNF415	55786	broad.mit.edu	37	19	53611915	53611915	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:53611915G>A	ENST00000455735.2	-	7	1847	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.I509I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000500065.4_Silent_p.I461I			Q09FC8	ZN415_HUMAN	zinc finger protein 415	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTCCAGTATGGATGACCTGAT	0.438000													63	310					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112481476	112481476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:112481476C>A	ENST00000261745.4	-	18	2451	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	735						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGGTTGCCTCCAGCTGTTGA	0.433000													69	107					4.83677e-39	5.74367e-39	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152757155	152757155	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:152757155G>C	ENST00000367255.5	-	33	4832	c.4231C>G	c.(4231-4233)Caa>Gaa	p.Q1411E	SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1411					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTATTTTGGGGCCCAAGC	0.403000										HNSCC(10;0.0054)			35	66					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567930	99567930	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:99567930G>A	ENST00000331335.5	-	5	3060	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P864S|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCATCCAGGGAATCCATAGC	0.463000													50	239					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	73006752	73006752	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr14:73006752G>A	ENST00000553525.1	+	17	1895	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	RGS6_ENST00000556437.1_Missense_Mutation_p.E458K|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000553530.1_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.E458K|RGS6_ENST00000554782.1_Missense_Mutation_p.E319K|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000343854.6_Missense_Mutation_p.E421K|RGS6_ENST00000407322.4_Missense_Mutation_p.E458K|RGS6_ENST00000434263.2_Missense_Mutation_p.E389K|RGS6_ENST00000404301.2_Missense_Mutation_p.E458K	NM_001204424.1	NP_001191353.1	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	456					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCTAAAGCCAGAAAGTGAGCA	0.398000													9	13					0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75894094	75894094	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:75894094C>A	ENST00000388802.4	+	9	895	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	SRRM3_ENST00000326382.8_Missense_Mutation_p.S229Y					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCTCGAAGCTCCAAGTGCAAA	0.572000													11	74					9.05144e-12	1.00768e-11	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21451526	21451526	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:21451526G>T	ENST00000313654.9	+	38	5140	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1633D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1633	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGAGCGAGGTGGGGCTAG	0.577000													6	39					5.18039e-06	5.509e-06	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410019	159410019	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:159410019G>T	ENST00000423932.3	+	1	508	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	157					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AACTTGTCCTGGGGGCCTGCA	0.498000													100	95					4.60726e-43	5.49401e-43	1	1	0
SIAH2	6478	broad.mit.edu	37	3	150460311	150460311	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:150460311G>T	ENST00000312960.3	-	2	1119	c.592C>A	c.(592-594)Ctt>Att	p.L198I		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	198	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTCCCTGAAGGGTGGTAATG	0.537000													59	103					2.37032e-18	2.71302e-18	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183095268	183095268	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:183095268G>A	ENST00000258341.4	+	16	3072	c.2815G>A	c.(2815-2817)Gcc>Acc	p.A939T	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	939	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGACTGCCATGCCTTGGGCTC	0.488000													21	50					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76021343	76021343	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:76021343C>T	ENST00000275560.3	-	10	1696	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	450						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACTTGCAGTCCCAGCTCCTC	0.607000													3	12					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088522	109088522	+	Silent	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:109088522C>T	ENST00000309863.6	+	6	3451	c.2737C>T	c.(2737-2739)Cta>Tta	p.L913L		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	913					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCCACTACTAGAACAAAA	0.289000													47	178					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848402	48848402	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr2:48848402T>G	ENST00000394754.1	+	5	2446	c.2332T>G	c.(2332-2334)Ttg>Gtg	p.L778V	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L74V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		778					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGCACAGCTTGCACCAAAC	0.403000													24	116					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897937	182897937	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:182897937G>A	ENST00000328913.3	-	28	3324	c.3027C>T	c.(3025-3027)agC>agT	p.S1009S	MCF2L2_ENST00000473233.1_Silent_p.S1009S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1009					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAACTCCCTGCTGGAGCAGC	0.547000													54	450					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47662744	47662744	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr21:47662744G>T	ENST00000397708.1	-	26	5652	c.5398C>A	c.(5398-5400)Cag>Aag	p.Q1800K	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1800K|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1800					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCTCCTTCTGCGTCTGCAAC	0.393000													7	96					0.00198382	0.00202648	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154557505	154557505	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:154557505C>T	ENST00000409959.3	+	35	4659	c.4610C>T	c.(4609-4611)tCc>tTc	p.S1537F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S1536F	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1536						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTTTTTGGTTCCATCTGGGCC	0.463000													31	60					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41653976	41653976	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:41653976C>G	ENST00000597468.1	+	1	13	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	TFEB_ENST00000420312.1_Splice_Site|TFEB_ENST00000373033.1_Splice_Site|TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000230323.4_Splice_Site																							GCGCACGTCCCTGCAGCAGCA	0.562000													31	35					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609627	60609627	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:60609627G>T	ENST00000227520.5	+	1	84	c.30G>T	c.(28-30)cgG>cgT	p.R10R	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	10					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAGCCGACGGCTGGGAGGCC	0.642000													5	12					1	1	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762696	130762696	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:130762696G>C	ENST00000392429.1	+	2	3507	c.1129G>C	c.(1129-1131)Gct>Cct	p.A377P	TMEM200A_ENST00000296978.3_Missense_Mutation_p.A377P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	377						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCTCCTGGGGCTGCCAGAAG	0.517000													24	53					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16435982	16435982	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:16435982G>C	ENST00000380672.4	-	6	2267	c.2210C>G	c.(2209-2211)tCc>tGc	p.S737C	BNC2_ENST00000380666.2_Missense_Mutation_p.S737C|BNC2_ENST00000545497.1_Missense_Mutation_p.S642C|BNC2_ENST00000380667.2_Missense_Mutation_p.S670C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCCTTCCATGGATTCCTCGCC	0.522000													5	74					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641825	57641825	+	Silent	SNP	C	C	A	rs35663514		TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:57641825C>A	ENST00000254181.4	+	4	2236	c.1782C>A	c.(1780-1782)ccC>ccA	p.P594P	USP29_ENST00000598197.1_Silent_p.P594P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	594					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTTCTACCCGTTGAACCAG	0.488000													37	83					1.57351e-24	1.83041e-24	1	1	0
NLRC3	197358	broad.mit.edu	37	16	3613383	3613383	+	RNA	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr16:3613383C>T	ENST00000301749.7	-	0	1960				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACAAGAGGCCGGAGAGGAAG	0.692000													6	2					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	C	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular	zinc ion binding	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592000													6	153					8.12818e-05	8.39323e-05	1	1	0
ZCRB1	85437	broad.mit.edu	37	12	42707675	42707675	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:42707675C>G	ENST00000266529.3	-	6	630		c.e6+1		PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1						mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AATATACATACATTTCTTCTT	0.323000													26	40					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10984106	10984106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr6:10984106G>A	ENST00000354666.3	-	8	882	c.799C>T	c.(799-801)Caa>Taa	p.Q267*		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	267					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GGTGGCTCTTGCATATCTTTC	0.353000													14	73					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13737060	13737060	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr18:13737060T>G	ENST00000383314.2	+	5	845	c.605T>G	c.(604-606)tTg>tGg	p.L202W	RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.L202W|RNMT_ENST00000543302.2_Missense_Mutation_p.L202W|RNMT_ENST00000262173.3_Missense_Mutation_p.L202W|RNMT_ENST00000589866.1_Missense_Mutation_p.L202W			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	202					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATCACTGTTTTGGACCTGGGA	0.343000													34	92					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963958	88963958	+	Silent	SNP	G	G	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:88963958G>A	ENST00000333190.4	+	4	2271	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	554						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATATAATTTGGACTACAGTG	0.348000										HNSCC(36;0.09)			35	104					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38506107	38506107	+	Silent	SNP	A	A	G			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:38506107A>G	ENST00000263409.4	-	9	1353	c.1191T>C	c.(1189-1191)ttT>ttC	p.F397F	LIFR_ENST00000453190.2_Silent_p.F397F|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	397	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAAGCATTTGAAATAATAATT	0.274000			T	PLAG1	salivary adenoma								10	275					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1145041	1145041	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:1145041C>T	ENST00000335877.6	+	6	861	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	229	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCAGGCCTCCCGAACCGACT	0.582000													68	451					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761																											AGCAGGCAGACCAAGGAGTTC	0.587000													5	38					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531027	84531027	+	RNA	SNP	A	A	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr9:84531027A>T	ENST00000527857.1	+	0	1049					NR_026851.1																						GTTCTGGTGGATCATCCACAT	0.478000													4	6					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197643257	197643257	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:197643257C>T	ENST00000235453.4	-	5	416	c.139G>A	c.(139-141)Gtt>Att	p.V47I	DENND1B_ENST00000367396.3_Missense_Mutation_p.V57I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	57	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TACCTTTCAACGTCAAAGGGA	0.264000													18	16					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081126	54081126	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54081126T>A	ENST00000253144.9	+	7	2645	c.1312T>A	c.(1312-1314)Tcc>Acc	p.S438T	ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGGGCGAAATCCTACGAATG	0.488000			T	?	follicular thyroid adenoma								18	32					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131830041	131830041	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:131830041G>T	ENST00000359827.3	-	29	6024	c.5062C>A	c.(5062-5064)Ctg>Atg	p.L1688M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M			Q9HCM2	PLXA4_HUMAN	plexin A4	1688						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACTTCTGCAGTGTGCCCTGG	0.547000													30	60					3.99451e-17	4.5356e-17	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27997958	27997958	+	Silent	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chrX:27997958G>T	ENST00000441525.1	-	1	1608	c.1494C>A	c.(1492-1494)acC>acA	p.T498T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	498										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTAGGCCACTGGTCGCCAACA	0.493000													11	24					0.00829132	0.00840934	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115534704	115534704	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr10:115534704G>T	ENST00000354462.3	+	3	289	c.131G>T	c.(130-132)tGt>tTt	p.C44F	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.C114F|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.C300F|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.C212F|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.C294F					pleckstrin homology domain containing, family S member 1																		ATTGATTGGTGTCTTTCCCCT	0.498000													14	76					6.31663e-08	6.87114e-08	1	1	0
RUNDC3B	154661	broad.mit.edu	37	7	87399965	87399965	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr7:87399965C>T	ENST00000338056.3	+	8	1160	c.749C>T	c.(748-750)aCt>aTt	p.T250I	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAAGCAGTACTCCAGAGAAT	0.413000													24	34					0	0	1	0	0
RP13-221M14.3	0	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515													4	9	---	---	---	---					
GLB1	2720	broad.mit.edu	37	3	33118660	33118660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr3:33118660delT	ENST00000445488.2	-	2	205	c.145delA	c.(145-147)gafs	p.R49fs	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron			P16278	BGAL_HUMAN	galactosidase, beta 1	25			R -> C (in GM1G1).|R -> H (in GM1G3).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTGGTACCTCTTTTGTGAAGC	0.488													2	4	---	---	---	---					
NDST4	64579	broad.mit.edu	37	4	115749064	115749064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr4:115749064delG	ENST00000264363.2	-	14	3205	c.2527delC	c.(2527-2529)gafs	p.R843fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	843	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATGATCTCGGTAGTAATTA	0.408													36	51	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	90	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40843385	40843406	+	Frame_Shift_Del	DEL	CACTTGGATTTGGAAACCTCTG	CACTTGGATTTGGAAACCTCTG	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG	ENST00000254691.5	+	2	614_635	c.415_436delCACTTGGATTTGGAAACCTCTG	c.(415-438)agfs	p.HLDLETSE139fs	CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	139					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAGAAGGAACACTTGGATTTGGAAACCTCTGAGTTTTTCAG	0.414													17	148	---	---	---	---					
RPL10AP3	137107	broad.mit.edu	37	8	34180668	34180668	+	RNA	DEL	C	C	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr8:34180668delC	ENST00000522460.1	+	0	282																											ACAGCCACAGCCAGAGGTAAC	0.453													8	14	---	---	---	---					
AP003068.18	0	broad.mit.edu	37	11	64943050	64943050	+	RNA	DEL	T	T	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:64943050delT	ENST00000534819.1	-	0	891																											gcccggctaattttttttttg	0.522													2	4	---	---	---	---					
SIDT2	51092	broad.mit.edu	37	11	117049982	117049982	+	Translation_Start_Site	DEL	G	G	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:117049982delG	ENST00000324225.4	+	0	534				SIDT2_ENST00000431081.2_Start_Codon_Del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2							integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCGGGGCCATGTTCGCTCTGG	0.697													15	47	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900938	123900938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr11:123900938delA	ENST00000431524.1	+	1	642	c.609delA	c.(607-609)ggfs	p.G203fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACTGTTGGAATAGTGGCCT	0.537													38	121	---	---	---	---					
KRT72	140807	broad.mit.edu	37	12	52995193	52995193	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr12:52995193delC	ENST00000293745.2	-	1	129	c.44delG	c.(43-45)gcfs	p.G15fs	KRT72_ENST00000354310.4_Frame_Shift_Del_p.G15fs|KRT72_ENST00000537672.2_Frame_Shift_Del_p.G15fs|KRT72_ENST00000398066.3_5'UTR	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	15	Gly-rich.|Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACCGCTGAAGCCCAGGCGCTC	0.701													2	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													3	3	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-UF-A71A-01A-22D-A34J-08	TCGA-UF-A71A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c267b1-0f58-40c1-a37e-32a6a08ca742	4a33b7ff-d353-4eb8-8829-99970bbd3d85	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													8	219	---	---	---	---					
