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
CNTNAP4	85445	broad.mit.edu	37	16	76528820	76528820	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:76528820G>A	ENST00000307431.8	+	15	2476	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L	CNTNAP4_ENST00000476707.1_Silent_p.L701L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L649L|CNTNAP4_ENST00000478060.1_Silent_p.L625L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	698	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAACCCCTCTGAGTTGGTGGG	0.408000													35	106					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4403883	4403883	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4403883G>C	ENST00000272902.5	-	9	1105	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	SUMF1_ENST00000534863.1_Intron|SUMF1_ENST00000458465.2_Missense_Mutation_p.S225C|SUMF1_ENST00000383843.5_Missense_Mutation_p.S332C|SUMF1_ENST00000405420.2_Missense_Mutation_p.S337C	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	357	Interaction with sulfatases.					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATTCGAAGCAGAGCTATCAGG	0.532000													14	68					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468075	164468075	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:164468075G>C	ENST00000333129.3	-	3	581	c.267C>G	c.(265-267)agC>agG	p.S89R	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	89						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCGAATAGTTGCTGAGTACGG	0.453000													43	205					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22700008	22700008	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:22700008G>A	ENST00000376603.2	+	10	1733	c.1591G>A	c.(1591-1593)Ggc>Agc	p.G531S	SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.G455S|SPAG6_ENST00000538630.1_Missense_Mutation_p.G430S|SPAG6_ENST00000376601.1_Missense_Mutation_p.G216S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR			O75602	SPAG6_HUMAN	sperm associated antigen 6	455					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AACAAGTGGTGGCCTTAAAAA	0.398000													11	89					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442749	25442749	+	RNA	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:25442749T>C	ENST00000424208.1	+	0	1636				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1																						CCTTATATGTTCTGAAGAGAG	0.498000													17	645					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7012055	7012055	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012055G>C	ENST00000389658.3	-	24	3539	c.3446C>G	c.(3445-3447)cCg>cGg	p.P1149R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAAGCACGGGCTGCAGCC	0.577000													16	36					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074069	32074069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:32074069C>T	ENST00000438447.1	+	18	3245	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R953*			O15018	PDZD2_HUMAN	PDZ domain containing 2	953					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGGCCCTCCGAAACCCTCT	0.592000													35	106					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34308390	34308390	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:34308390T>A	ENST00000293275.3	-	1	142	c.67A>T	c.(67-69)Agc>Tgc	p.S23C		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	23					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGGCTGGCTGCGAGAAGCC	0.587000													11	18					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929543	32929543	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:32929543G>C	ENST00000361627.3	+	12	3291	c.2569G>C	c.(2569-2571)Ggg>Cgg	p.G857R	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.G668R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.G668R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	857					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACAACCTACAGGGCATAAGTT	0.423000													47	122					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393461	18393461	+	Missense_Mutation	SNP	C	C	A	rs148881242		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18393461C>A	ENST00000440756.2	-	16	3044	c.2942G>T	c.(2941-2943)cGc>cTc	p.R981L	PSD3_ENST00000286485.8_Missense_Mutation_p.R445L|PSD3_ENST00000523619.1_Missense_Mutation_p.R914L|PSD3_ENST00000327040.8_Missense_Mutation_p.R979L|PSD3_ENST00000428502.2_Missense_Mutation_p.R308L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	980					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CATTTCATAGCGGGTTTTCTG	0.478000													32	67					2.81731e-10	3.13149e-10	1	1	0
COG5	10466	broad.mit.edu	37	7	106964929	106964929	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106964929G>A	ENST00000393603.2	-	11	1428	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	COG5_ENST00000297135.3_Missense_Mutation_p.S386L|COG5_ENST00000347053.3_Missense_Mutation_p.S386L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	386					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTGAGTAACTGAATTCCAAAA	0.244000													16	89					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90536009	90536009	+	RNA	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90536009C>T	ENST00000602681.1	+	0	1913																											CAAGCTCTCTCCTTACCTGAA	0.483000													84	325					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535348	90535348	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90535348G>A	ENST00000602681.1	+	0	1252																											GCATCCTCAGGATCTGGCCTC	0.602000													90	204					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48559548	48559548	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:48559548G>A	ENST00000358350.4	-	34	4651	c.4047C>T	c.(4045-4047)cgC>cgT	p.R1349R	FRYL_ENST00000537810.1_Silent_p.R1349R|FRYL_ENST00000507711.1_Silent_p.R1349R|FRYL_ENST00000503238.1_Silent_p.R1349R|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1349					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCCGTAACCAGCGCCTACTAG	0.438000													48	137					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317853	31317853	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:31317853G>T	ENST00000265071.2	+	11	1969	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	CDH6_ENST00000514738.1_Silent_p.V513V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	568	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTGCCTGTGGTCATTTCAG	0.502000													29	107					1.5548e-18	1.86822e-18	1	1	0
CARD6	84674	broad.mit.edu	37	5	40853910	40853910	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:40853910G>T	ENST00000254691.5	+	3	2675	c.2476G>T	c.(2476-2478)Gta>Tta	p.V826L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	826					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						TTGTCAGCATGTACAGGCCTG	0.473000													140	496					2.87455e-64	3.75048e-64	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143633082	143633082	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:143633082G>T	ENST00000408955.2	+	1	824	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTGTGCTACGGCACAACGAT	0.512000													46	74					1.61004e-24	2.02671e-24	1	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47309249	47309249	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:47309249G>T	ENST00000380995.1	+	9	1190	c.894G>T	c.(892-894)cgG>cgT	p.R298R	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000337137.4_Intron|TBC1D22A_ENST00000407381.3_Intron			Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	0	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTTGTGGTCGGCCTCAGATTC	0.453000													6	26					0.248553	0.249373	1	1	0
GALNT9	50614	broad.mit.edu	37	12	132681769	132681769	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:132681769G>T	ENST00000328957.8	-	11	1694	c.1695C>A	c.(1693-1695)ggC>ggA	p.G565G	GALNT9_ENST00000535228.1_Silent_p.G316G|GALNT9_ENST00000397325.2_Silent_p.G199G|GALNT9_ENST00000541995.1_Silent_p.G199G	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	565	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCAGGCAGCGGCCCGTGGCCC	0.627000													28	37					2.61193e-14	3.02487e-14	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130427223	130427223	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:130427223C>T	ENST00000356763.3	-	10	3002	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	815					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTACACCTTTCTGACTACTAT	0.398000													103	161					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903290	6903290	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:6903290G>C	ENST00000486284.1	+	1	489	c.215G>C	c.(214-216)aGg>aCg	p.R72T	GRM7_ENST00000357716.4_Missense_Mutation_p.R72T|GRM7_ENST00000403881.1_Missense_Mutation_p.R72T|GRM7_ENST00000402647.2_Missense_Mutation_p.R72T|GRM7_ENST00000389336.4_Missense_Mutation_p.R72T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	72					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACATCAAGAGGGAAAACGGG	0.657000													5	13					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151237331	151237331	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:151237331C>T	ENST00000368884.3	+	4	386	c.306C>T	c.(304-306)ggC>ggT	p.G102G	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.G102G	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	102	VWFA.				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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCGACAAGGCAAGAATCACA	0.522000													6	34					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941095	52941095	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:52941095C>A	ENST00000371544.3	-	13	2398	c.2136G>T	c.(2134-2136)acG>acT	p.T712T	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	712					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTCCACCCTTCGTCTGAGGAC	0.423000													33	94					3.80469e-20	4.67324e-20	1	1	0
FAT1	2195	broad.mit.edu	37	4	187629000	187629000	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187629000A>C	ENST00000441802.2	-	2	2191	c.1982T>G	c.(1981-1983)aTa>aGa	p.I661R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	661	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCACTGTTATGTTGATATA	0.448000										HNSCC(5;0.00058)			20	59					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881501	26881501	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26881501G>A	ENST00000231021.4	-	12	2286	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	705					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCCACAGAGGCACAGTCCT	0.408000													20	210					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957441	121957441	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:121957441A>G	ENST00000379692.4	-	4	2211	c.1685T>C	c.(1684-1686)gTg>gCg	p.V562A		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	562	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTAGTTTTCACAACCTTACT	0.378000													61	154					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13071769	13071769	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:13071769G>C	ENST00000399002.2	+	5	920	c.646G>C	c.(646-648)Gct>Cct	p.A216P	SPTLC3_ENST00000378194.4_Missense_Mutation_p.A216P	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	216					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACCTTGTGGCTAAGTTCCT	0.423000													55	138					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760374	133760374	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133760374G>A	ENST00000318560.5	+	11	3078	c.2697G>A	c.(2695-2697)ccG>ccA	p.P899P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	899	DNA-binding (By similarity).|Poly-Pro.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACCTGCCCCGCCGCCCCCAC	0.677000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								6	15					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386421	118386421	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:118386421G>A	ENST00000537242.1	+	0	403				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGGACTGGAGGCACGGGTCC	0.502000													6	29					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308809	176308809	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176308809G>A	ENST00000292432.5	-	17	2368	c.2277C>T	c.(2275-2277)atC>atT	p.I759I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	759	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGGCGGACGATCTCCCCCA	0.567000													32	52					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86388068	86388068	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:86388068G>A	ENST00000285379.5	+	5	716	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	162					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TTGTTGATGTGCTGGATTCCA	0.373000													21	54					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137484192	137484192	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:137484192C>T	ENST00000306087.1	+	1	614	c.566C>T	c.(565-567)aCg>aTg	p.T189M		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	189					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CACACGCACACGCACCCGTCC	0.687000													4	12					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130504178	130504178	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:130504178C>A	ENST00000314830.8	-	9	2090	c.1977G>T	c.(1975-1977)gaG>gaT	p.E659D	SH2D3C_ENST00000429553.1_Missense_Mutation_p.E305D|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E499D|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E502D|SH2D3C_ENST00000373276.3_Missense_Mutation_p.E591D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E501D	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	659	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCCCGCTCCTCCGCAGAGC	0.682000													16	29					1.3612e-06	1.45195e-06	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91229927	91229927	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:91229927C>T	ENST00000509176.1	+	2	780	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CCSER1_ENST00000333691.8_Silent_p.F164F|CCSER1_ENST00000432775.2_Silent_p.F164F	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTCTGGTTTCACAGAAGACC	0.373000													16	45					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240644	39240644	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39240644C>A	ENST00000391417.4	+	1	186	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGCCAACCCACCTGCTGTC	0.647000													18	81					6.33239e-15	7.36155e-15	1	1	0
PSD3	23362	broad.mit.edu	37	8	18656828	18656828	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:18656828G>C	ENST00000440756.2	-	8	2161	c.2059C>G	c.(2059-2061)Ctt>Gtt	p.L687V	PSD3_ENST00000286485.8_Missense_Mutation_p.L153V|PSD3_ENST00000523619.1_Missense_Mutation_p.L622V|PSD3_ENST00000327040.8_Missense_Mutation_p.L687V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	687	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCGGTATTAAGAAGCATTATT	0.363000													27	77					0	0	1	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447725	29447725	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29447725G>C	ENST00000420504.2	-	2	773	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	TMEM200B_ENST00000521452.1_Missense_Mutation_p.L206V	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	206	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TCTGAACGCAGACTCCGCACT	0.687000													7	43					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793352	217793352	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:217793352G>A	ENST00000366935.3	-	2	656	c.546C>T	c.(544-546)acC>acT	p.T182T	GPATCH2_ENST00000366934.3_Silent_p.T182T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	182						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CAGGTGGCTGGGTCATTGTCC	0.443000													45	163					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91682141	91682141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91682141C>T	ENST00000359028.2	+	23	5731	c.5506C>T	c.(5506-5508)Cga>Tga	p.R1836*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R1836*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R1824*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1836					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGTCACAACGACTTGTGAG	0.403000			T	BRAF	papillary thyroid								23	53					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700686	55700686	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55700686T>C	ENST00000373965.2	-	25	3587	c.3193A>G	c.(3193-3195)Att>Gtt	p.I1065V	PCDH15_ENST00000395433.1_Missense_Mutation_p.I1036V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.I1058V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1058V|PCDH15_ENST00000395430.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1063V|PCDH15_ENST00000409834.1_Missense_Mutation_p.I669V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1021V|PCDH15_ENST00000437009.1_Missense_Mutation_p.I987V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1058V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1065V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1058	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGCAGAAATTACACCAACC	0.373000										HNSCC(58;0.16)			27	42					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536121	152536121	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:152536121C>G	ENST00000367255.5	-	122	22867	c.22266G>C	c.(22264-22266)ttG>ttC	p.L7422F	SYNE1_ENST00000423061.1_Missense_Mutation_p.L7351F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7034F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1946F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7422F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7351F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7422					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)		CCTTATCATTCAAGGGTAACC	0.393000										HNSCC(10;0.0054)			37	151					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373000													6	657					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106900386	106900386	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:106900386G>T	ENST00000286398.7	+	24	3645	c.3357G>T	c.(3355-3357)ttG>ttT	p.L1119F	SMC2_ENST00000374793.3_Missense_Mutation_p.L1119F|SMC2_ENST00000374787.3_Missense_Mutation_p.L1119F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1119	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGCAGCCTTGGATCTTTCTC	0.388000													48	74					6.68952e-21	8.26672e-21	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33165313	33165313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:33165313C>A	ENST00000280979.4	+	9	3167	c.2997C>A	c.(2995-2997)taC>taA	p.Y999*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.Y999*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.Y999*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	999					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCATCTTTACAAGGTTAGAG	0.478000													10	73					2.17888e-05	2.30794e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338542	28338542	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:28338542G>T	ENST00000284987.5	-	1	290	c.169C>A	c.(169-171)Cct>Act	p.P57T		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	57					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGCCGGGAGGCTCGGCTCGC	0.731000													14	39					1.05317e-09	1.16001e-09	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21355855	21355855	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:21355855C>T	ENST00000313654.9	+	10	1614	c.1373C>T	c.(1372-1374)gCa>gTa	p.A458V	LAMA3_ENST00000399516.3_Missense_Mutation_p.A458V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	458	Domain V.|Laminin EGF-like 3.				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)	GAGAAGTGTGCAATTGGATAC	0.507000													23	78					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196461471	196461471	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:196461471C>T	ENST00000367433.5	-	2	197	c.95_splice	c.e2-1	p.R32_splice	KCNT2_ENST00000367431.4_Splice_Site_p.R32_splice|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.R32_splice			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	32						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAACTTGTACCCTGCAAACAG	0.254000													3	31					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22084256	22084256	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:22084256G>A	ENST00000308271.9	-	2	803	c.155C>T	c.(154-156)cCg>cTg	p.P52L	USP48_ENST00000400301.1_Missense_Mutation_p.P52L|USP48_ENST00000529637.1_Missense_Mutation_p.P52L|USP48_ENST00000421625.2_Missense_Mutation_p.P52L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	52					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CAAGCAATTCGGATTTCCTTT	0.323000													19	54					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44097352	44097352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:44097352C>G	ENST00000267812.3	-	9	1492	c.1260G>C	c.(1258-1260)aaG>aaC	p.K420N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	420						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCCCAGCTGCCTTTTGTTTGA	0.498000													30	114					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070845	19070845	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070845G>T	ENST00000569532.1	+	15	2265	c.2135G>T	c.(2134-2136)tGg>tTg	p.W712L	TMC7_ENST00000304381.5_Intron|TMC7_ENST00000421369.3_Intron			Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGAGGGTCATGGCTGGGGACA	0.522000													10	86					3.86212e-05	4.0416e-05	1	1	0
KLHDC8B	200942	broad.mit.edu	37	3	49211804	49211804	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:49211804C>T	ENST00000332780.2	+	3	718	c.509C>T	c.(508-510)aCc>aTc	p.T170I	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	170						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGCCTCCACCTTCCTGCAC	0.612000													21	77					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066728	175066728	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:175066728A>G	ENST00000239462.4	+	8	1877	c.1764A>G	c.(1762-1764)acA>acG	p.T588T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	588	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCCTGACAGGCCTGAGGC	0.587000													23	84					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70072666	70072666	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:70072666C>A	ENST00000330891.5	-	5	715	c.489G>T	c.(487-489)atG>atT	p.M163I	BEST3_ENST00000488961.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000476098.1_Start_Codon_SNP_p.M1I|BEST3_ENST00000553096.1_Missense_Mutation_p.M57I|BEST3_ENST00000331471.4_Missense_Mutation_p.M163I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	163						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATCTGTTGTCATAAAACCTT	0.333000													8	41					0.0581538	0.0587334	1	1	0
JARID2	3720	broad.mit.edu	37	6	15496739	15496739	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:15496739G>A	ENST00000341776.2	+	7	1527	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R256Q|JARID2_ENST00000541660.1_Missense_Mutation_p.R390Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	428					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGCAGCTGCGGGAGGGCCTG	0.652000													14	52					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8113334	8113334	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:8113334A>G	ENST00000378641.3	+	1	511	c.36A>G	c.(34-36)caA>caG	p.Q12Q	PLCB1_ENST00000378637.2_Silent_p.Q12Q|PLCB1_ENST00000338037.6_Silent_p.Q12Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	12				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACGCCTTGCAACTCAAGCCCG	0.687000													13	30					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	116163757	116163757	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:116163757A>T	ENST00000490035.1	-	1	621	c.122T>A	c.(121-123)aTc>aAc	p.I41N	LSAMP_ENST00000539563.1_Missense_Mutation_p.I38N	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	41	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTCACGGTGATGTTGTCCGT	0.557000													18	33					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543263	23543263	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:23543263C>T	ENST00000300619.7	-	4	2723	c.2518G>A	c.(2518-2520)Gcc>Acc	p.A840T	ZNF91_ENST00000397082.2_Missense_Mutation_p.A808T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	840						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)				TTAGCAAGGGCTGAGGAGTGC	0.368000													24	94					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31722151	31722151	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:31722151C>T	ENST00000320027.5	-	10	1667	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	HSPH1_ENST00000429785.2_Silent_p.E260E|HSPH1_ENST00000380405.4_Silent_p.E441E|HSPH1_ENST00000380406.5_Silent_p.E400E|HSPH1_ENST00000445273.2_Silent_p.E443E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	441					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AAGCTTCTAGCTCAAAAGGCC	0.388000													16	174					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195799023	195799023	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:195799023C>A	ENST00000360110.4	-	5	604	c.434_splice	c.e5-1	p.K145_splice	TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Splice_Site_p.K64_splice|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Splice_Site_p.K145_splice	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	145					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CATTCAGCAGCCTGGAGGAGA	0.308000			T	BCL6	NHL								17	104					3.99206e-14	4.60564e-14	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91729012	91729012	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:91729012G>A	ENST00000359028.2	+	44	10962	c.10737G>A	c.(10735-10737)gtG>gtA	p.V3579V	AKAP9_ENST00000358100.2_Silent_p.V3525V|AKAP9_ENST00000356239.3_Silent_p.V3575V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3579					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGCTTGGTGTCCCCAAGTA	0.418000			T	BRAF	papillary thyroid								52	167					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004501	248004501	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248004501C>A	ENST00000355784.2	-	1	753	c.698G>T	c.(697-699)gGc>gTc	p.G233V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTTCTCCGGCCAGAGGTGGA	0.502000													19	78					5.35267e-07	5.73972e-07	1	1	0
ZNF491	126069	broad.mit.edu	37	19	11917346	11917346	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:11917346G>C	ENST00000323169.5	+	3	909	c.578G>C	c.(577-579)gGg>gCg	p.G193A	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGGAGTGTGGGAAATCATTC	0.423000													29	57					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58444966	58444966	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:58444966C>G	ENST00000357552.3	-	36	3853	c.3628G>C	c.(3628-3630)Gaa>Caa	p.E1210Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1210Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1210					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTTGTGTTTCTTGTGTAAGT	0.308000													41	167					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744409	37744409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:37744409G>T	ENST00000539465.1	+	16	2973	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*	FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E794*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	794						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCTACTGCAGAACCCAGTGC	0.507000													50	352					2.17126e-26	2.74454e-26	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113694742	113694742	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113694742C>A	ENST00000297405.5	-	16	2850	c.2606G>T	c.(2605-2607)gGa>gTa	p.G869V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTCTGTTCCCTGGGTTTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	112					3.45872e-05	3.64454e-05	1	1	0
SYK	6850	broad.mit.edu	37	9	93650814	93650814	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93650814A>T	ENST00000375754.4	+	13	1888	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D	SYK_ENST00000375747.1_Missense_Mutation_p.E557D|SYK_ENST00000375751.4_Missense_Mutation_p.E557D|SYK_ENST00000375746.1_Missense_Mutation_p.E580D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	580	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGGAAGTGAAGTCACCGCTA	0.438000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								5	20					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87636846	87636846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:87636846G>A	ENST00000284262.2	+	1	336	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	32	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGTCTGCACCGGCCCCAAGGG	0.647000													4	99					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11091407	11091407	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:11091407G>A	ENST00000403050.3	+	14	2933	c.2481_splice	c.e14+1	p.T827_splice	PHF14_ENST00000445996.2_Splice_Site_p.T542_splice	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	827							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAGAAACACGGTAGTTTATT	0.388000													11	32					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156520	111156520	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:111156520G>A	ENST00000280325.4	+	4	599	c.452G>A	c.(451-453)aGc>aAc	p.S151N		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	151										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGGGCTCAAGCTGGGGGTCA	0.642000													18	97					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230550	110230550	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:110230550C>T	ENST00000418703.2	-	10	1825	c.1731G>A	c.(1729-1731)gtG>gtA	p.V577V	TRPV4_ENST00000536838.1_Silent_p.V543V|TRPV4_ENST00000544971.1_Silent_p.V470V|TRPV4_ENST00000392719.2_Silent_p.V530V|TRPV4_ENST00000346520.2_Silent_p.V517V|TRPV4_ENST00000261740.2_Silent_p.V577V|TRPV4_ENST00000541794.1_Silent_p.V530V|TRPV4_ENST00000537083.1_Silent_p.V517V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	577					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAAAGACCATCACGGCCAGGT	0.577000													7	34					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33286951	33286951	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33286951C>A	ENST00000374542.5	-	7	2190	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	DAXX_ENST00000414083.2_Missense_Mutation_p.K587N|DAXX_ENST00000266000.6_Missense_Mutation_p.K662N	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	662	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGTACATATCTTTTTCCCAT	0.542000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								31	82					9.78306e-22	1.21638e-21	1	1	0
TGM6	343641	broad.mit.edu	37	20	2375188	2375188	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2375188G>A	ENST00000202625.2	+	2	159	c.98G>A	c.(97-99)cGc>cAc	p.R33H	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.R33H	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	33					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTGGTGGTTCGCAGGGGCCAG	0.632000													12	18					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730229	37730229	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:37730229A>C	ENST00000330843.4	-	4	2103	c.2091T>G	c.(2089-2091)ccT>ccG	p.P697P	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	697					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCCTGTTTCAGGCTGCTCTG	0.522000													26	88					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54791898	54791898	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54791898C>G	ENST00000297313.3	+	2	338	c.246C>G	c.(244-246)ctC>ctG	p.L82L	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	82					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTTCCAGCCTCGCAAGGTTCT	0.701000													44	125					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112295	10112295	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:10112295C>T	ENST00000264828.3	-	8	1100	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	339	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCTGGCTGCCTTGGTCTCC	0.532000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113793721	113793721	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:113793721G>A	ENST00000375559.3	+	4	345	c.307G>A	c.(307-309)Gac>Aac	p.D103N	F10_ENST00000409306.1_Missense_Mutation_p.D103N|F10_ENST00000375551.3_Missense_Mutation_p.D103N	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	103	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATGTAAAGACGGCCTCGG	0.488000													12	57					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119015117	119015117	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:119015117G>A	ENST00000298472.5	+	9	987	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	282					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAGTCAGAAGGGGACACCCCT	0.612000													22	74					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333932	133333932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:133333932C>T	ENST00000372394.1	+	5	800	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	ASS1_ENST00000352480.5_Nonsense_Mutation_p.Q107*|ASS1_ENST00000372393.3_Nonsense_Mutation_p.Q107*			P00966	ASSY_HUMAN	argininosuccinate synthase 1	107					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GGAAATCGCCCAGCGGGAGGG	0.662000													11	32					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029375	102029375	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:102029375C>T	ENST00000251127.6	-	5	489	c.408G>A	c.(406-408)atG>atA	p.M136I	NALCN_ENST00000376196.3_Missense_Mutation_p.M136I|NALCN_ENST00000376200.5_Missense_Mutation_p.M136I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	136						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAAGGTGACATCTGATCAA	0.398000													32	69					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100287351	100287351	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:100287351C>G	ENST00000395996.1	+	19	2804	c.2693C>G	c.(2692-2694)cCt>cGt	p.P898R	VPS13B_ENST00000358544.2_Missense_Mutation_p.P898R|VPS13B_ENST00000357162.2_Missense_Mutation_p.P898R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	898					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTCAGGGTCCTTCTGACACT	0.373000													28	65					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189406034	189406034	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:189406034A>T	ENST00000409580.1	+	8	1102	c.388A>T	c.(388-390)Agc>Tgc	p.S130C	GULP1_ENST00000409830.1_Missense_Mutation_p.S130C|GULP1_ENST00000409609.1_Missense_Mutation_p.S130C|GULP1_ENST00000409637.3_Missense_Mutation_p.S130C|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.S130C|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409843.1_Missense_Mutation_p.S130C|GULP1_ENST00000359135.3_Missense_Mutation_p.S130C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	130	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGTATTTGACAGCGAAAAGTG	0.343000													38	95					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17436109	17436109	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:17436109G>A	ENST00000159087.4	-	17	2906	c.2748C>T	c.(2746-2748)caC>caT	p.H916H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	916						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCCGGGCATGGTGCTCTGCAT	0.697000													12	37					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6742679	6742679	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:6742679G>A	ENST00000230859.6	+	5	464	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	112					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACGGGCGTCCGGGCAGCGGAG	0.478000													23	62					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772658	27772658	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:27772658C>A	ENST00000333743.6	+	8	1199	c.945C>A	c.(943-945)gcC>gcA	p.A315A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACGTGACCGCCATGGACCTTT	0.567000													15	51					2.31682e-05	2.44979e-05	1	1	0
IGHV2-70	28454	broad.mit.edu	37	14	107178905	107178905	+	RNA	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:107178905G>T	ENST00000390634.2	-	0	347																											GGTGTCCTTGGAGATGGTGAG	0.517000													37	187					4.32679e-17	5.13807e-17	1	1	0
ZNF549	256051	broad.mit.edu	37	19	58049439	58049439	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:58049439C>T	ENST00000376233.3	+	4	1248	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T343I|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCACACTGGAGAGAGG	0.443000													29	56					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220449	13220449	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:13220449C>T	ENST00000592062.1	-	12	1796	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	TRMT1_ENST00000357720.4_Missense_Mutation_p.G409D|TRMT1_ENST00000221504.8_Missense_Mutation_p.G380D|TRMT1_ENST00000437766.1_Missense_Mutation_p.G409D			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	409							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGACACGGCCCACAAAATC	0.652000													12	53					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4715055	4715055	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:4715055G>A	ENST00000302640.8	+	20	2745	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E814K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E814K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E799K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E814K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E799K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	814					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATTCCCTCGGAGATCGCCAT	0.522000													30	106					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960515	36960515	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:36960515G>A	ENST00000300105.6	-	4	1836	c.855C>T	c.(853-855)acC>acT	p.T285T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	285					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTAGGTGGCGGTGGGCGTGG	0.607000													4	108					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39180235	39180235	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:39180235A>T	ENST00000301819.6	+	29	4099	c.3922A>T	c.(3922-3924)Agg>Tgg	p.R1308W	TTC21A_ENST00000431162.2_Missense_Mutation_p.R1307W|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1259W	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1307							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCCAAGATCAGGGAGGAAAT	0.572000													15	77					0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15478027	15478027	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:15478027C>T	ENST00000396842.2	+	5	1130	c.705C>T	c.(703-705)gcC>gcT	p.A235A	EAF1_ENST00000432764.2_Silent_p.A134A|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	235	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GTAGGCCTGCCGTTGCCAATG	0.577000													17	79					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74207459	74207459	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:74207459C>T	ENST00000498286.1	+	11	2034	c.1756_splice	c.e11-1	p.A586_splice	MTO1_ENST00000370305.1_Splice_Site_p.A537_splice|MTO1_ENST00000415954.2_Splice_Site_p.A626_splice|MTO1_ENST00000370300.4_Splice_Site_p.A611_splice			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	611				LA -> CT (in Ref. 1; AAL35894).	tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGTTGACCAGCCACTTATGAA	0.333000													11	72					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431658	45431658	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:45431658C>T	ENST00000361462.2	+	1	217	c.34C>T	c.(34-36)Ccg>Tcg	p.P12S	FAM179B_ENST00000382233.2_Missense_Mutation_p.P12S|FAM179B_ENST00000361577.3_Missense_Mutation_p.P12S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	12							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTCTGCTGCCGCCCTTTCC	0.612000													5	28					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32855702	32855702	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:32855702T>C	ENST00000317907.4	+	2	432	c.201T>C	c.(199-201)gaT>gaC	p.D67D		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	67							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAAAGATTGATAGCTACCTGG	0.348000													28	67					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766624	77766624	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77766624G>T	ENST00000521891.2	+	10	7915	c.7467G>T	c.(7465-7467)caG>caT	p.Q2489H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2444H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2463H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2444						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCTCCACAGTTACTACAAT	0.502000										HNSCC(33;0.089)			33	60					4.3181e-19	5.24033e-19	1	1	0
AP2B1	163	broad.mit.edu	37	17	33977578	33977578	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:33977578G>C	ENST00000262325.7	+	13	2119	c.1566G>C	c.(1564-1566)cgG>cgC	p.R522R	AP2B1_ENST00000592545.1_Silent_p.R484R|AP2B1_ENST00000589344.1_Silent_p.R522R|AP2B1_ENST00000538556.1_Silent_p.R465R|AP2B1_ENST00000537622.2_Silent_p.R522R|AP2B1_ENST00000312678.8_Silent_p.R522R|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	522					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCGAGACCGGGGCTATATTT	0.458000													43	95					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58317311	58317311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:58317311C>T	ENST00000528954.1	-	7	824	c.705G>A	c.(703-705)tgG>tgA	p.W235*	LPXN_ENST00000528489.1_Nonsense_Mutation_p.W210*|LPXN_ENST00000395074.2_Nonsense_Mutation_p.W230*	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	230	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTCTGGGTGCCAGGTCTGGT	0.488000													10	46					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429085	139429085	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:139429085G>A	ENST00000272641.3	-	2	308	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATGGGGCCGGGCTTGGGCACC	0.562000													12	150					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32119209	32119209	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:32119209C>A	ENST00000373672.3	-	70	5119	c.4603G>T	c.(4603-4605)Ggc>Tgc	p.G1535C	RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1535C|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|COL16A1_ENST00000461217.1_5'UTR	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1535	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTGGGGGGCCGGGAAGACCA	0.458000													21	37					1.66031e-10	1.85564e-10	1	1	0
SEMA4A	64218	broad.mit.edu	37	1	156132738	156132738	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:156132738G>A	ENST00000368285.3	+	10	1254	c.987G>A	c.(985-987)caG>caA	p.Q329Q	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.Q329Q|SEMA4A_ENST00000368284.1_Silent_p.Q197Q|SEMA4A_ENST00000368286.2_Silent_p.Q197Q|SEMA4A_ENST00000355014.2_Silent_p.Q329Q	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	329	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCCAGGCAGGTTGGCGGGA	0.532000													21	99					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	213					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605193	142605193	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:142605193A>G	ENST00000370503.2	-	1	110	c.27T>C	c.(25-27)aaT>aaC	p.N9N		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	9										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCTCCCCATTGGTGCTGG	0.443000													93	144					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623337	33623337	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:33623337G>A	ENST00000361680.2	+	1	340	c.262G>A	c.(262-264)Gac>Aac	p.D88N	WDR88_ENST00000355868.3_Missense_Mutation_p.D88N|WDR88_ENST00000592765.1_Missense_Mutation_p.D88N			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	88										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGGCGACCAGGACCCTCTCTC	0.657000													26	28					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7012056	7012056	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7012056G>C	ENST00000389658.3	-	24	3538	c.3445C>G	c.(3445-3447)Ccg>Gcg	p.P1149A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1149	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGAAGCACGGGCTGCAGCCC	0.572000													17	38					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74313120	74313120	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:74313120C>T	ENST00000377044.4	-	20	3917	c.3377_splice	c.e20-1	p.G1126_splice	TMEM2_ENST00000377066.5_Splice_Site_p.G1063_splice|TMEM2_ENST00000396272.3_Splice_Site_p.G119_splice	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1126						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAAACAGTAACCTGCACAAAA	0.408000													19	90					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38327856	38327856	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38327856C>T	ENST00000215957.6	+	10	2058	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	644	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGCAGCGTCCCCAGCCACAA	0.587000													14	141					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20029145	20029145	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:20029145C>T	ENST00000377340.2	-	5	811	c.779_splice	c.e5-1	p.R260_splice	CRNKL1_ENST00000536226.1_Splice_Site_p.R99_splice|CRNKL1_ENST00000377327.4_Splice_Site_p.R248_splice	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	260					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGGATCGAGCCCTTAAGAAGC	0.398000													14	34					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501498	90501498	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:90501498C>G	ENST00000325643.5	+	4	2162	c.2096C>G	c.(2095-2097)tCc>tGc	p.S699C		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TTCAGGAGCTCCGGAAGGTTC	0.597000													23	76					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49416584	49416584	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:49416584T>C	ENST00000274813.3	-	7	1516	c.1389A>G	c.(1387-1389)atA>atG	p.I463M		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	463					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGTTTAGGTATTCCCTCAG	0.323000													55	131					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59058805	59058805	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:59058805C>G	ENST00000361488.3	+	5	896	c.16C>G	c.(16-18)Cta>Gta	p.L6V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	6						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CACGGAGACCCTACAGACAGG	0.627000													5	25					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841546	130841546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130841546G>A	ENST00000245255.3	+	13	1760	c.1488G>A	c.(1486-1488)tgG>tgA	p.W496*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	496					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAGATAACTGGCTGTTGATCT	0.368000													31	62					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667000													7	41					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444314	23444314	+	Splice_Site	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:23444314C>G	ENST00000262713.2	-	5	1615		c.e5-1		AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTTGTAGGATCTGGCTCATGG	0.517000													23	34					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697575	124697575	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124697575T>C	ENST00000481909.1	-	5	973	c.749A>G	c.(748-750)aAc>aGc	p.N250S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	250										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GGACGACTTGTTTAAGGTTCC	0.408000													35	132					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128054	83128054	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128054C>A	ENST00000329312.4	+	4	375	c.338C>A	c.(337-339)gCa>gAa	p.A113E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTTAAAAAAGCAGAATATAAA	0.368000													17	19					3.32936e-07	3.59547e-07	1	1	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:132912341C>T	ENST00000409867.1	-	4	757	c.507_splice	c.e4-1	p.A170_splice	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like									p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313000													3	15					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364261	103364261	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103364261C>T	ENST00000358392.2	-	56	4562	c.4245G>A	c.(4243-4245)aaG>aaA	p.K1415K	COL11A1_ENST00000512756.1_Silent_p.K1287K|COL11A1_ENST00000353414.4_Silent_p.K1364K|COL11A1_ENST00000370096.3_Silent_p.K1403K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1403	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGACCAGGCTTTCCTGCAG	0.458000													11	35					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711989	40711989	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:40711989G>C	ENST00000454349.2	+	21	5158	c.4947G>C	c.(4945-4947)tgG>tgC	p.W1649C	TNRC6B_ENST00000402203.1_Missense_Mutation_p.W845C|TNRC6B_ENST00000335727.8_Missense_Mutation_p.W1539C|TNRC6B_ENST00000301923.9_Missense_Mutation_p.W845C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1649	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTAGTTACTGGCTGGTTCTTC	0.428000													16	42					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22646170	22646170	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:22646170A>C	ENST00000333957.4	-	11	1504	c.1249T>G	c.(1249-1251)Tca>Gca	p.S417A	C2CD5_ENST00000545552.1_Missense_Mutation_p.S430A|C2CD5_ENST00000396028.2_Missense_Mutation_p.S408A|C2CD5_ENST00000536386.1_Missense_Mutation_p.S419A|C2CD5_ENST00000544930.1_Missense_Mutation_p.S232A|C2CD5_ENST00000446597.1_Missense_Mutation_p.S417A|C2CD5_ENST00000542676.1_Missense_Mutation_p.S417A	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ATGCTAGTTGATTCACTGTAG	0.383000													37	155					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517553	173517553	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:173517553T>G	ENST00000367714.3	-	12	1858	c.1436A>C	c.(1435-1437)gAt>gCt	p.D479A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.D377A	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	479					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCTCGTTTTATCTTCTACTAA	0.363000													29	95					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547130	113547130	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:113547130G>T	ENST00000416899.2	+	10	1522	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	MUSK_ENST00000374448.4_Missense_Mutation_p.D474Y|MUSK_ENST00000189978.5_Missense_Mutation_p.D474Y|MUSK_ENST00000374438.1_Intron			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	474					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCCAAGTGTGGACATTCCAAA	0.373000													41	62					4.67007e-22	5.84239e-22	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103548523	103548523	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103548523G>T	ENST00000358392.2	-	2	429	c.112C>A	c.(112-114)Cca>Aca	p.P38T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P38T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P38T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P38T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	38	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATCAACTGGAGCAGCTGAA	0.333000													11	71					3.86212e-05	4.0416e-05	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196786826	196786826	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196786826C>A	ENST00000312428.6	-	24	4021	c.3921G>T	c.(3919-3921)acG>acT	p.T1307T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1307	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACATCTATCCGTGAGTGGTG	0.353000													24	51					6.36457e-07	6.81278e-07	1	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239780	134239780	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:134239780G>A	ENST00000535456.2	+	11	1296		c.e11+1		GLB1L2_ENST00000389881.3_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000529077.1_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCATCTCAGGTACCCAGCAG	0.547000													32	95					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894421	166894421	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166894421G>T	ENST00000423058.2	-	15	2828	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F909L|SCN1A_ENST00000303395.4_Missense_Mutation_p.F937L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F926L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	937						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGAGTGGAAGAAGTCATTCA	0.517000													61	163					6.20203e-27	7.85591e-27	1	1	0
KRT7	3855	broad.mit.edu	37	12	52629034	52629034	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:52629034C>T	ENST00000331817.5	+	2	603	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	140	Linker 1.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCCCAGACATCTTTGAGGCCC	0.632000													23	55					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423864	88423864	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423864A>C	ENST00000297203.2	-	2	578	c.393T>G	c.(391-393)atT>atG	p.I131M	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	131										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAATGACTATAATTTTCATTT	0.348000													27	78					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335009	335009	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:335009C>T	ENST00000219406.6	+	4	690	c.672C>T	c.(670-672)ttC>ttT	p.F224F	PDIA2_ENST00000404312.1_Silent_p.F221F|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	224					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGTTCTCTTCAAGAAGGTAG	0.632000													56	55					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190831	39190831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39190831G>T	ENST00000344363.5	-	1	276	c.243C>A	c.(241-243)tgC>tgA	p.C81*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	91			Missing (in allele KAP1.9).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCCAGTTCCGCAGGAGCTGG	0.627000													37	51					7.04047e-22	8.77174e-22	1	1	0
C1orf198	84886	broad.mit.edu	37	1	231004195	231004195	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:231004195G>C	ENST00000366663.5	-	1	204	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	22										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGTCGTCCAGAGGCCGGTTC	0.697000													9	24					0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28633341	28633341	+	Missense_Mutation	SNP	G	G	A	rs146865172		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:28633341G>A	ENST00000416984.2	-	13	1794	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	INTS9_ENST00000521777.1_Missense_Mutation_p.R476W|INTS9_ENST00000521022.1_Missense_Mutation_p.R500W|INTS9_ENST00000397363.4_Missense_Mutation_p.R394W	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	500					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCAGCCCGCCGATAGGACATG	0.602000													7	53					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111504461	111504461	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:111504461C>A	ENST00000261486.5	-	22	2183	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	636						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATCCCCAGAACCCTGAGCATC	0.403000													13	29					2.23348e-06	2.37405e-06	1	1	0
SLC16A10	117247	broad.mit.edu	37	6	111543244	111543244	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:111543244T>C	ENST00000368850.3	+	5	898	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	SLC16A10_ENST00000368851.5_Missense_Mutation_p.F452L			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	452					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGATGTGGCATTCTACCTCGC	0.493000													14	119					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708096	146708096	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146708096A>G	ENST00000392299.2	+	7	2143	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRM1_ENST00000492807.2_Missense_Mutation_p.D558G|GRM1_ENST00000361719.2_Missense_Mutation_p.D558G|GRM1_ENST00000355289.4_Missense_Mutation_p.D558G|GRM1_ENST00000282753.1_Missense_Mutation_p.D558G|GRM1_ENST00000507907.1_Missense_Mutation_p.D558G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	558					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TATGTGCAAGATGAGTTCACC	0.438000													42	140					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861561	55861561	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:55861561C>A	ENST00000302124.2	+	1	809	c.778C>A	c.(778-780)Caa>Aaa	p.Q260K	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCTATTTGCAACCTGATAA	0.493000													25	139					2.27525e-19	2.77225e-19	1	1	0
WNT8A	7478	broad.mit.edu	37	5	137426742	137426742	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:137426742C>G	ENST00000506684.1	+	5	1326	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V	WNT8A_ENST00000398754.1_Missense_Mutation_p.L346V			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	346					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCCAGTCCCTGGGTAAGGG	0.502000													28	59					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81730186	81730186	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:81730186G>T	ENST00000537098.3	+	14	1624	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V365L|CMIP_ENST00000539778.2_Missense_Mutation_p.V424L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	484						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CCTGCTGAGCGTGCGGGCCGG	0.622000													13	24					0.000219431	0.000228449	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176661369	176661369	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:176661369C>T	ENST00000367662.3	+	6	3703	c.2539C>T	c.(2539-2541)Ccc>Tcc	p.P847S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	847					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						CACCCCCATCCCCATTCCACC	0.512000													43	243					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42893304	42893304	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:42893304C>T	ENST00000304672.1	+	4	811	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	PTCRA_ENST00000446507.1_Missense_Mutation_p.P137S|PTCRA_ENST00000441198.1_Missense_Mutation_p.P219S	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	244						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CAGCAGTTACCCCACTTGCCC	0.642000													3	15					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420458	56420458	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:56420458G>A	ENST00000407595.2	+	2	1625	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	375								p.G375R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACAAACACGGAGGAGGCAG	0.642000													14	29					0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36375984	36375984	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36375984G>A	ENST00000357058.3	-	3	660	c.54C>T	c.(52-54)agC>agT	p.S18S	RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_5'UTR|RNF38_ENST00000377885.2_Silent_p.S18S|RNF38_ENST00000353739.4_Silent_p.S51S|RNF38_ENST00000350199.4_Silent_p.S18S|RNF38_ENST00000259605.6_Silent_p.S101S	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	101							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGTGATGTTGGCTTGGTCGAA	0.443000													14	107					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2522995	2522995	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:2522995C>T	ENST00000288709.6	-	23	2454		c.e23+1		MMEL1_ENST00000502556.1_Splice_Site|MMEL1_ENST00000378412.3_Splice_Site	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1						proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGAGACTTGCCTGTACTTCA	0.592000													12	114					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37140900	37140900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:37140900G>T	ENST00000373509.5	+	5	1109	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	337	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CGAGCATGACGAAGAGATCAT	0.532000			T	BCL6	NHL								20	67					1.01871e-10	1.14066e-10	1	1	0
RYR1	6261	broad.mit.edu	37	19	39076578	39076578	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:39076578G>A	ENST00000355481.4	+	102	14920	c.14788_splice	c.e102-1	p.G4930_splice	RYR1_ENST00000360985.3_Splice_Site_p.G4930_splice|RYR1_ENST00000359596.3_Splice_Site_p.G4935_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4935					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCACCCCAGGTCTGATCATC	0.582000													21	44					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109475564	109475564	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:109475564C>A	ENST00000356711.2	+	9	1095	c.969C>A	c.(967-969)acC>acA	p.T323T	MYO16_ENST00000357550.2_Silent_p.T323T|MYO16_ENST00000251041.5_Silent_p.T323T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	323					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCTTCTACCTTAGCTCAAG	0.418000													43	98					1.8453e-21	2.28967e-21	1	1	0
TLL2	7093	broad.mit.edu	37	10	98129948	98129948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:98129948G>T	ENST00000357947.3	-	20	3012	c.2787C>A	c.(2785-2787)taC>taA	p.Y929*		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	929	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTCCACGCCGTAGCCGTCCT	0.607000													20	49					0.00047179	0.000487837	1	1	0
RPSAP58	388524	broad.mit.edu	37	19	24010155	24010155	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:24010155T>A	ENST00000496398.1	+	4	615	c.192T>A	c.(190-192)gcT>gcA	p.A64A	RPSAP58_ENST00000354585.4_Silent_p.A64A|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CAGCTCGTGCTATTGTTGCCA	0.473000													10	62					0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103515434	103515434	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:103515434G>A	ENST00000602836.1	+	16	3211	c.3211G>A	c.(3211-3213)Gga>Aga	p.G1071R	ERCC5_ENST00000355739.4_Silent_p.S645S	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AAATTGACTCGGAAGAAAGTG	0.443000													12	57					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721457	72721457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:72721457G>A	ENST00000428206.1	-	4	333	c.320C>T	c.(319-321)aCc>aTc	p.T107I	NSUN5_ENST00000438747.2_Missense_Mutation_p.T145I|NSUN5_ENST00000310326.8_Missense_Mutation_p.T145I|NSUN5_ENST00000252594.6_Missense_Mutation_p.T145I	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	145							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ATCGGAGCAGGTCTTGAGAGT	0.542000													32	96					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63620322	63620322	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63620322G>C	ENST00000178638.3	-	9	1322	c.882C>G	c.(880-882)gtC>gtG	p.V294V	CA12_ENST00000560666.1_Intron|CA12_ENST00000344366.3_Intron|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	294					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CCGCAGTACAGACTTGCACTT	0.527000													9	43					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519621	149519621	+	RNA	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149519621T>A	ENST00000378016.2	+	0	13111							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGCAGCTGGAGCAGCTG	0.721000													12	23					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:19473591G>A	ENST00000507958.1	-	15	3107	c.2117C>T	c.(2116-2118)aCc>aTc	p.T706I	CDH18_ENST00000274170.4_Missense_Mutation_p.T706I|CDH18_ENST00000382275.1_Missense_Mutation_p.T706I|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T706N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTTTCCAGGGTGGATGATGT	0.493000													23	104					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891730	2891730	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:2891730C>A	ENST00000254528.3	+	4	1764	c.1605C>A	c.(1603-1605)gtC>gtA	p.V535V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	535					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ATGAACGGGTCATGATGGAAT	0.532000													20	96					1.40151e-16	1.65139e-16	1	1	0
GRB14	2888	broad.mit.edu	37	2	165383572	165383572	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:165383572T>C	ENST00000263915.3	-	4	1093	c.555A>G	c.(553-555)ctA>ctG	p.L185L	GRB14_ENST00000543549.1_Silent_p.L98L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	185	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTAAAGTATAGTTTGTTTT	0.328000													41	72					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39725676	39725676	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39725676A>G	ENST00000246662.4	-	4	1110		c.e4+1		KRT9_ENST00000588431.1_Splice_Site	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9						intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACTCTGCTCACCTGAGTCTC	0.502000													8	44					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	77					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173740	126173740	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:126173740G>T	ENST00000339582.2	-	9	2504	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S	GRM8_ENST00000444921.2_Missense_Mutation_p.R566S|GRM8_ENST00000358373.3_Missense_Mutation_p.R566S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	566					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R566S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGCCTGTGCGGTTCATGTTG	0.532000										HNSCC(24;0.065)			22	72					7.92952e-12	8.96124e-12	1	1	0
KLHL4	56062	broad.mit.edu	37	X	86919928	86919928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:86919928G>A	ENST00000373119.4	+	10	2235	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.W697*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	697						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGAAATGAATGGAAAGAGGTA	0.318000													21	39					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645834	39645834	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39645834C>T	ENST00000393986.2	-	2	345	c.133G>A	c.(133-135)Gag>Aag	p.E45K	KRT36_ENST00000328119.6_Missense_Mutation_p.E95K			O76013	KRT36_HUMAN	keratin 36	95	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCATAGTCTCCTTCTCGCTG	0.627000													35	117					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463247	121463247	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:121463247T>G	ENST00000305949.1	+	3	249	c.204T>G	c.(202-204)tgT>tgG	p.C68W		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	68					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCAAGCCTGTTCAGTGGGAG	0.333000													11	119					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435877	435877	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:435877G>C	ENST00000338977.5	-	2	2391	c.2343C>G	c.(2341-2343)tcC>tcG	p.S781S	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.S793S|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CAAAGCTTGAGGATGACGTAA	0.368000													23	41					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171780911	171780911	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:171780911C>T	ENST00000311601.5	-	9	936	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.E256K	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	256	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCAGCCTTCCAGGTTTTTC	0.592000													13	24					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5965750	5965750	+	Nonsense_Mutation	SNP	G	G	A	rs113413307	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:5965750G>A	ENST00000378156.4	-	14	1970	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	569					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCTCCTGTAACTGTTCG	0.592000													4	23					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154519500	154519500	+	Missense_Mutation	SNP	C	C	G	rs61736428		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:154519500C>G	ENST00000404039.1	+	8	1181	c.594C>G	c.(592-594)atC>atG	p.I198M	DPP6_ENST00000377770.3_Missense_Mutation_p.I262M|DPP6_ENST00000332007.3_Missense_Mutation_p.I200M|DPP6_ENST00000427557.1_Missense_Mutation_p.I155M	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	262					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AAAACAATATCTACTACTGTG	0.373000													13	33					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672313	186672313	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:186672313C>A	ENST00000343098.5	+	17	18547	c.18547C>A	c.(18547-18549)Cca>Aca	p.P6183T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6094T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATCTCTTGCCACAGTTTGG	0.333000													56	95					2.64514e-33	3.39292e-33	1	1	0
SEMA6B	10501	broad.mit.edu	37	19	4555498	4555498	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4555498C>T	ENST00000586582.1	-	7	860	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A184T|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A184T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	184	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGAGGGCAACATTGGCG	0.592000													18	29					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752623	62752623	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:62752623G>A	ENST00000331425.6	-	0	812					NR_003952.1																						AAGTGCTGAGGAGCGCCTAAA	0.458000													14	70					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880319	121880319	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:121880319C>T	ENST00000377069.4	-	18	3124	c.2718G>A	c.(2716-2718)tcG>tcA	p.S906S	KDM2B_ENST00000377071.4_Silent_p.S975S|KDM2B_ENST00000542973.1_Silent_p.S343S|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	975					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCAGGCTCCGACTTGATGG	0.667000													9	33					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596810	48596810	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:48596810C>T	ENST00000310248.2	-	1	360	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AATGTGGTCCCTGACCACGAG	0.512000													16	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042180	34042180	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:34042180G>A	ENST00000389232.4	+	56	8270	c.8199_splice	c.e56-1	p.G2734_splice	RYR3_ENST00000415757.3_Splice_Site_p.G2734_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2734	4 X approximate repeats.				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)		TGGGACACAGGGAATGGTGGA	0.517000													4	19					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181731778	181731778	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:181731778C>A	ENST00000526775.1	+	32	4782	c.4617C>A	c.(4615-4617)atC>atA	p.I1539I	CACNA1E_ENST00000367570.1_Silent_p.I1558I|CACNA1E_ENST00000367573.2_Silent_p.I1558I|CACNA1E_ENST00000357570.5_Silent_p.I1509I|CACNA1E_ENST00000360108.3_Silent_p.I1539I|CACNA1E_ENST00000367567.4_Silent_p.I1165I|CACNA1E_ENST00000358338.5_Silent_p.I1490I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1558					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGAAATTATCCTGACAGACA	0.398000													30	27					1.06801e-11	1.20473e-11	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36564294	36564294	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:36564294C>G	ENST00000397799.1	-	4	1212	c.988G>C	c.(988-990)Gct>Cct	p.A330P	COL8A2_ENST00000303143.4_Missense_Mutation_p.A330P|COL8A2_ENST00000481785.1_Missense_Mutation_p.A265P			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	330	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACCCCAGCTGGGCCCCTG	0.721000													7	14					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021346	245021346	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:245021346T>C	ENST00000444376.2	-	7	1638	c.1404A>G	c.(1402-1404)ggA>ggG	p.G468G	HNRNPU_ENST00000283179.9_Silent_p.G487G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	487					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GCCCCTTTGGTCCTCTAACTC	0.373000													24	51					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379976	107379976	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:107379976C>T	ENST00000259362.1	-	1	509	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R170R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACATTCTTCCTGCAGAAAG	0.448000													38	109					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406547	57406547	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:57406547T>C	ENST00000543257.1	-	10	1783	c.1217A>G	c.(1216-1218)tAc>tGc	p.Y406C	C8B_ENST00000535057.1_Missense_Mutation_p.Y396C|C8B_ENST00000371237.4_Missense_Mutation_p.Y458C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGCTGGGTTGTACTGCACAGC	0.562000													16	59					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70917990	70917990	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:70917990C>A	ENST00000393567.2	-	59	9962	c.9812G>T	c.(9811-9813)gGg>gTg	p.G3271V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3271										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGCCAAACCCAGGGTACAC	0.567000													5	11					1	1	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574456	140574456	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140574456G>A	ENST00000239446.4	+	1	2515	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		777					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGATATTCAGGCACAGGGCC	0.458000													37	60					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27100932	27100932	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27100932G>T	ENST00000359193.2	+	1	101	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	28					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CCAGTTCCCCGTGGGCCGAGT	0.667000													32	66					1.61788e-16	1.89898e-16	1	1	0
BEND5	79656	broad.mit.edu	37	1	49208439	49208439	+	Silent	SNP	G	G	A	rs148772068	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:49208439G>A	ENST00000371833.3	-	4	836	c.750C>T	c.(748-750)ccC>ccT	p.P250P	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	250										large_intestine(5)|lung(2)|skin(1)	8						GATCAATGGCGGGACCTAGGC	0.438000													21	59					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579967	82579967	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:82579967G>A	ENST00000423517.2	-	6	10274	c.9937C>T	c.(9937-9939)Cgg>Tgg	p.R3313W	PCLO_ENST00000333891.8_Missense_Mutation_p.R3313W|PCLO_ENST00000437081.1_Missense_Mutation_p.R33W	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3244					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGATCTGCCGAATCTTTTGC	0.493000													30	109					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155065	106155065	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:106155065A>G	ENST00000513237.1	+	3	826	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TET2_ENST00000545826.1_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000413648.2_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000540549.1_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTCAACTAGAGGGCAGCCTT	0.373000			"""Mis N, F"""		MDS								16	48					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647702	130647702	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130647702C>G	ENST00000229030.4	+	1	699	c.215C>G	c.(214-216)gCg>gGg	p.A72G	FZD10_ENST00000539839.1_Silent_p.R39R			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	72	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACGAGTTCGCGCCGCTGGTG	0.637000													6	56					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90986712	90986712	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:90986712G>C	ENST00000336233.5	-	5	800	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	LIPA_ENST00000456827.1_Missense_Mutation_p.L160V|LIPA_ENST00000371837.1_Missense_Mutation_p.L104V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	160					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTTTTATTCAGAATGAAGTTA	0.333000													43	91					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131860427	131860427	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:131860427C>T	ENST00000318080.2	-	11	1623	c.1328_splice	c.e11-1	p.R443_splice	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	443					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTCCGTAGATCCTGGTGGGAA	0.652000													41	139					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169675713	169675713	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:169675713T>A	ENST00000046794.5	-	21	2205	c.1590A>T	c.(1588-1590)gcA>gcT	p.A530A	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Silent_p.A325A	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	530	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATGGGTACCCTGCAGCATGCG	0.468000													75	95					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22277018	22277018	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:22277018C>G	ENST00000324559.8	+	13	1599	c.1282C>G	c.(1282-1284)Cca>Gca	p.P428A		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	428						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGCTGAGACCAGAATTTGA	0.433000													14	130					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105443729	105443729	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:105443729A>G	ENST00000258494.9	-	13	1783	c.1643T>C	c.(1642-1644)gTg>gCg	p.V548A		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	548	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAATGTTTGCACAGACATTCC	0.413000													56	146					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492686	198492686	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:198492686G>A	ENST00000367381.1	-	5	315	c.210C>T	c.(208-210)ggC>ggT	p.G70G	ATP6V1G3_ENST00000489986.1_Silent_p.G70G|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Silent_p.G64G|ATP6V1G3_ENST00000281087.2_Silent_p.G64G			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	64					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TATTCTGAGAGCCCATTATCT	0.333000													14	91					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7906565	7906565	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:7906565G>T	ENST00000332175.8	+	4	1568	c.531G>T	c.(529-531)gtG>gtT	p.V177V	PTPRM_ENST00000580170.1_Silent_p.V177V|PTPRM_ENST00000400053.4_Silent_p.V115V|PTPRM_ENST00000400060.4_Silent_p.V177V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	177	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGTGAAGGTGTTAGGACATC	0.348000													72	77					9.16385e-24	1.14879e-23	1	1	0
CWC22	57703	broad.mit.edu	37	2	180810347	180810347	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:180810347C>T	ENST00000410053.3	-	20	2535	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	CWC22_ENST00000295749.6_Missense_Mutation_p.E746K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	746						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TGTCTTCTTTCTTTTTGTTTC	0.393000													4	91					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113878	147113878	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147113878G>T	ENST00000383075.3	-	3	961	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ZIC4_ENST00000484399.1_Missense_Mutation_p.T150N|ZIC4_ENST00000473123.1_Missense_Mutation_p.T150N|ZIC4_ENST00000425731.3_Missense_Mutation_p.T188N|ZIC4_ENST00000525172.2_Missense_Mutation_p.T200N|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	150						nucleus	DNA binding|zinc ion binding	p.T150I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTCGTGCATGGTGCTGAAAGT	0.637000													50	110					2.24059e-37	2.88618e-37	1	1	0
NXPE1	120400	broad.mit.edu	37	11	114393791	114393791	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:114393791T>C	ENST00000536271.1	-	3	1309	c.66A>G	c.(64-66)acA>acG	p.T22T	NXPE1_ENST00000251921.2_Silent_p.T164T|NXPE1_ENST00000424269.1_Silent_p.T306T					neurexophilin and PC-esterase domain family, member 1																		CAACTTGGCATGTCTCTTCTA	0.373000													18	94					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128281	147128281	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:147128281T>A	ENST00000282928.4	+	1	1111	c.382T>A	c.(382-384)Ttc>Atc	p.F128I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	128					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGGGGGCTTCGGGGGCCC	0.711000													5	35					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550377	167550377	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:167550377T>A	ENST00000341935.5	+	3	1211	c.659T>A	c.(658-660)cTc>cAc	p.L220H	CCR6_ENST00000349984.4_Missense_Mutation_p.L220H|CCR6_ENST00000400926.2_Missense_Mutation_p.L220H	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	220					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTGAGCTACTCTTTGGTTTC	0.448000													59	97					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126214562	126214562	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:126214562T>A	ENST00000373624.2	-	17	1493	c.1292A>T	c.(1291-1293)tAc>tTc	p.Y431F	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.Y399F|DENND1A_ENST00000394215.2_Missense_Mutation_p.Y401F|DENND1A_ENST00000542603.1_Missense_Mutation_p.Y173F|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y399F|DENND1A_ENST00000373620.3_Missense_Mutation_p.Y431F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	431						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACGAACTTGTAGACAGTCTT	0.383000													30	78					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811221	160811221	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160811221C>A	ENST00000368034.4	-	3	611	c.434G>T	c.(433-435)aGa>aTa	p.R145I	CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.R145I|CD244_ENST00000368033.3_Missense_Mutation_p.R150I	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	150	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGGCATCTCCCTCTGTC	0.522000													40	133					4.14481e-20	5.08073e-20	1	1	0
MAP9	79884	broad.mit.edu	37	4	156277005	156277005	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:156277005T>C	ENST00000311277.4	-	9	1416	c.1153A>G	c.(1153-1155)Agt>Ggt	p.S385G	MAP9_ENST00000515654.1_Missense_Mutation_p.S361G|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000593387.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	385					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTTTAGAACTAGATTTCTTC	0.348000													17	51					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508853	106508853	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:106508853G>T	ENST00000359195.3	+	2	1157	c.847G>T	c.(847-849)Ggc>Tgc	p.G283C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G283C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G283C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	283					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTACCTGGTGGGCGAAACGCC	0.547000													22	35					5.26018e-13	6.02295e-13	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94540144	94540144	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94540144C>A	ENST00000289495.5	+	1	935	c.719C>A	c.(718-720)tCt>tAt	p.S240Y	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S240Y|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S240Y	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	240						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)			AATTTACCATCTGTTACTGTT	0.423000										HNSCC(28;0.073)			11	47					0.000978159	0.001008	1	1	0
SLC40A1	30061	broad.mit.edu	37	2	190430181	190430181	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:190430181T>C	ENST00000261024.2	-	6	1085	c.659A>G	c.(658-660)tAc>tGc	p.Y220C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	220					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAGCAGAACGTACTCCACGCA	0.468000													30	67					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434604	110434604	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:110434604G>A	ENST00000375856.3	-	1	4311	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1266	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ctgcggctggggtggcagcCC	0.701000													10	31					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74535779	74535779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:74535779C>T	ENST00000263665.6	-	3	213	c.186G>A	c.(184-186)tgG>tgA	p.W62*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	62	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCAGCTGCCATCTGTAAA	0.343000													25	63					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71103586	71103586	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:71103586G>A	ENST00000448642.2	+	7	561	c.172G>A	c.(172-174)Gac>Aac	p.D58N	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.D27N|HK1_ENST00000360289.2_Missense_Mutation_p.D11N|HK1_ENST00000359426.6_Missense_Mutation_p.D23N|HK1_ENST00000298649.3_Missense_Mutation_p.D22N			P19367	HXK1_HUMAN	hexokinase 1	23	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCTCCAGATTGACAAGTATCT	0.542000													46	202					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501617	136501617	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136501617C>A	ENST00000393056.2	+	1	136	c.124C>A	c.(124-126)Ccc>Acc	p.P42T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	42					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGCTCGGCTCCCCGTGAGAG	0.652000													19	32					2.4624e-09	2.69754e-09	1	1	0
USH2A	7399	broad.mit.edu	37	1	216420234	216420234	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:216420234G>C	ENST00000366943.2	-	13	2888	c.2502C>G	c.(2500-2502)ttC>ttG	p.F834L	USH2A_ENST00000307340.3_Missense_Mutation_p.F834L|USH2A_ENST00000366942.3_Missense_Mutation_p.F834L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	834	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCGTAGGTAGAAGTTTCCCT	0.453000										HNSCC(13;0.011)			12	199					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:198950684C>A	ENST00000428675.1	+	2	2841	c.2443C>A	c.(2443-2445)Cca>Aca	p.P815T	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438000													33	103					1.61788e-16	1.89898e-16	1	1	0
PICK1	9463	broad.mit.edu	37	22	38468504	38468504	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:38468504G>A	ENST00000404072.3	+	9	924	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PICK1_ENST00000356976.3_Missense_Mutation_p.V193M|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	193	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CGTGTTCTCCGTGATCGGGGT	0.607000													8	72					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522752	39522752	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:39522752C>T	ENST00000251646.3	-	3	607	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	186	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGACAGCAGCTCCTCCTTCA	0.562000													7	73					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22558366	22558366	+	RNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:22558366A>G	ENST00000550753.1	+	0	1348					NR_003676.2																						ATTAAGCTCTATAGCCACAAA	0.438000													15	50					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720184	146720184	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:146720184T>A	ENST00000392299.2	+	8	2479	c.2009T>A	c.(2008-2010)aTg>aAg	p.M670K	GRM1_ENST00000492807.2_Missense_Mutation_p.M670K|GRM1_ENST00000361719.2_Missense_Mutation_p.M670K|GRM1_ENST00000355289.4_Missense_Mutation_p.M670K|GRM1_ENST00000282753.1_Missense_Mutation_p.M670K|GRM1_ENST00000507907.1_Missense_Mutation_p.M670K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	670					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCTCTGCGATGTGCTACTCT	0.532000													63	199					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165436	139165436	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139165436T>A	ENST00000395297.1	-	13	1452	c.1282A>T	c.(1282-1284)Aat>Tat	p.N428Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	428										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATCAAAATTAGGATAAACA	0.299000										HNSCC(54;0.14)			25	77					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4689615	4689615	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:4689615C>G	ENST00000262960.9	-	15	1993	c.1716G>C	c.(1714-1716)acG>acC	p.T572T	DPP9_ENST00000598800.1_Silent_p.T543T|DPP9_ENST00000594671.1_Silent_p.T543T	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	543					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGAAGCCGGGCGTGGTGAGGC	0.667000													8	10					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592000													52	107					1.42923e-14	1.65834e-14	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47504486	47504486	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:47504486G>A	ENST00000426342.1	-	8	1399	c.653C>T	c.(652-654)cCa>cTa	p.P218L	MDGA2_ENST00000357362.3_Missense_Mutation_p.P218L|MDGA2_ENST00000439988.2_Missense_Mutation_p.P447L|MDGA2_ENST00000399232.2_Missense_Mutation_p.P516L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	447	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTTCCTGTGGAACAGTCAG	0.378000													48	82					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198034	101198034	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:101198034C>T	ENST00000294728.2	+	7	1687	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	VCAM1_ENST00000347652.2_Missense_Mutation_p.S437F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S330F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S467F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	529	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAAGGCAGTTCTGTGAATATG	0.527000													15	89					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086520	171086520	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:171086520C>A	ENST00000367755.4	+	9	1648	c.1537C>A	c.(1537-1539)Cat>Aat	p.H513N	FMO3_ENST00000542847.1_Missense_Mutation_p.H493N|FMO3_ENST00000392085.2_Missense_Mutation_p.H513N|FMO3_ENST00000538429.1_Missense_Mutation_p.H450N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	513					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTTTTTCCATTGGCTGAA	0.458000													16	110					1.99824e-07	2.16179e-07	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119202989	119202989	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:119202989C>A	ENST00000313400.4	-	22	3781	c.3681G>T	c.(3679-3681)gaG>gaT	p.E1227D	ASTN2_ENST00000288520.5_Missense_Mutation_p.E328D|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1176D|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1223D|ASTN2_ENST00000341734.4_Missense_Mutation_p.E279D|ASTN2_ENST00000361477.3_Missense_Mutation_p.E279D			O75129	ASTN2_HUMAN	astrotactin 2	1227						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGCTGAGACCTCCATCAGTG	0.512000													44	95					2.37825e-27	3.02505e-27	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129734650	129734650	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:129734650C>T	ENST00000446488.3	-	26	3973	c.3870G>A	c.(3868-3870)ccG>ccA	p.P1290P	NFRKB_ENST00000524746.1_Silent_p.P1290P|NFRKB_ENST00000304521.5_Silent_p.P1290P|NFRKB_ENST00000524794.1_Silent_p.P1315P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1290					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTAGGAGACGGAGCTGTAG	0.542000													29	100					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436832	248436832	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:248436832A>C	ENST00000318021.2	-	1	306	c.285T>G	c.(283-285)tgT>tgG	p.C95W		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGCACACCACAGCCAGCGC	0.582000													20	272					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17276720	17276720	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:17276720G>A	ENST00000544301.1	+	6	1324	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	VIM_ENST00000224237.5_Missense_Mutation_p.R304Q|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	304	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCCAACCGGAACAATGAC	0.488000													100	87					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951149	30951149	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:30951149C>T	ENST00000402321.1	-	3	1380	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A355T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A355T|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A355T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A355T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	355					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATGGCGGCGGCGTCCACG	0.711000													6	60					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528729	57528729	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:57528729A>G	ENST00000420713.1	+	4	674	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTCAAATGTAAAAACGATGG	0.333000													13	29					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25453334	25453334	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:25453334C>T	ENST00000255324.5	+	35	4835	c.4783C>T	c.(4783-4785)Cca>Tca	p.P1595S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1553S|RNF17_ENST00000339524.3_Missense_Mutation_p.P605S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1595					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGCTCCAGCACCAGAACAGAT	0.413000													24	40					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319075	38319075	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:38319075C>T	ENST00000264645.7	+	6	932	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	236	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCGACAGGAGCTCATTGCTCT	0.512000													23	82					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149541326	149541326	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:149541326G>A	ENST00000258484.6	+	12	2051		c.e12+1			NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CAGCCTTCAGGTACAGCTGGG	0.448000													3	8					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57179362	57179362	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:57179362G>T	ENST00000504228.1	+	5	459		c.e5-1		KIAA1211_ENST00000264229.6_Splice_Site|KIAA1211_ENST00000541073.1_Splice_Site			Q6ZU35	K1211_HUMAN	KIAA1211											endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCTACAGGTTGCTCCCG	0.552000													98	221					4.84059e-39	6.24857e-39	1	1	0
TRIL	9865	broad.mit.edu	37	7	28996795	28996795	+	RNA	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:28996795T>G	ENST00000322982.3	-	0	1139							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GGCAGCTGGCTCAGCCGATTA	0.692000													4	10					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	192397	192397	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:192397C>T	ENST00000328278.3	+	1	772	c.744C>T	c.(742-744)acC>acT	p.T248T		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	248										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCTGCCCACCAAGGCCTTTG	0.697000													3	12					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69870148	69870148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:69870148G>A	ENST00000409085.4	-	2	401	c.25C>T	c.(25-27)Cga>Tga	p.R9*	AAK1_ENST00000406297.3_Nonsense_Mutation_p.R9*|AAK1_ENST00000409068.1_Nonsense_Mutation_p.R9*	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	9						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCCTGCTCTCGCCGGGAGTCG	0.517000													7	12					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785838	140785838	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785838C>A	ENST00000370515.3	-	2	411	c.78G>T	c.(76-78)ccG>ccT	p.P26P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCGAGGTCTCCGGCATCTGTT	0.488000													65	317					2.59843e-28	3.31204e-28	1	1	0
ZPBP	11055	broad.mit.edu	37	7	50132758	50132758	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:50132758C>A	ENST00000046087.2	-	1	102	c.33G>T	c.(31-33)cgG>cgT	p.R11R	ZPBP_ENST00000419417.1_Silent_p.R11R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	11					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					gccgcctgccccgccgcgcTG	0.736000													3	6					0.115264	0.11622	1	1	0
RBP3	5949	broad.mit.edu	37	10	48385935	48385935	+	Missense_Mutation	SNP	C	C	T	rs140160521		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:48385935C>T	ENST00000224600.4	-	2	3270	c.3157G>A	c.(3157-3159)Ggt>Agt	p.G1053S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1053	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCAGCTCACCGTCCCCAAAC	0.517000													26	122					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577617	162577617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:162577617G>A	ENST00000306100.5	-	7	1193	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q252*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q252*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	253	Ig-like 1.					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)		CTTAGTTTCTGATCTTCTGGC	0.408000													21	69					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65240897	65240897	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:65240897G>A	ENST00000381210.3	-	2	389	c.279C>T	c.(277-279)caC>caT	p.H93H	TECRL_ENST00000507440.1_Silent_p.H93H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	93					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACATGCTTTGTGAAACTTTT	0.229000													3	15					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21541242	21541242	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:21541242C>T	ENST00000298694.4	+	2	169	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ARHGEF40_ENST00000298693.3_Silent_p.L14L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	14					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGAGCACTCTCGCCGCCCTGT	0.592000													6	72					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698485	17698485	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:17698485C>T	ENST00000353383.1	+	3	2692	c.2223C>T	c.(2221-2223)gcC>gcT	p.A741A	RAI1_ENST00000261641.6_Silent_p.A741A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	741						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGACAGCGCCAACCCCTTTG	0.622000													20	82					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805452	55805452	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:55805452G>T	ENST00000309383.1	+	5	803	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	BRSK1_ENST00000590333.1_Missense_Mutation_p.G192C|BRSK1_ENST00000585418.1_Missense_Mutation_p.G176C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	176	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGCAGACTTCGGCATGGCGTC	0.612000													84	124					1.79992e-35	2.31364e-35	1	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:166902391C>G	ENST00000510118.1	-	12	1252	c.912G>C	c.(910-912)ccG>ccC	p.P304P	RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000503859.1_Silent_p.P287P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537000													11	34					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103003414	103003414	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103003414C>T	ENST00000409599.1	+	9	1259	c.903C>T	c.(901-903)gcC>gcT	p.A301A	IL18R1_ENST00000233957.1_Silent_p.A301A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	301	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCACTGTGGCCAGCACGGGAG	0.383000													25	100					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375519	93375519	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:93375519C>A	ENST00000375765.3	-	2	979	c.591G>T	c.(589-591)gtG>gtT	p.V197V		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	197					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCACATGATCACGCACTTGC	0.557000													20	64					1.96292e-10	2.18582e-10	1	1	0
MAP4	4134	broad.mit.edu	37	3	47958459	47958459	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:47958459C>T	ENST00000426837.2	-	8	996	c.909G>A	c.(907-909)gtG>gtA	p.V303V	MAP4_ENST00000383737.4_Silent_p.V286V|MAP4_ENST00000395734.3_Silent_p.V286V|MAP4_ENST00000360240.6_Silent_p.V286V			P27816	MAP4_HUMAN	microtubule-associated protein 4	286	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGCCAGTGTCACATCTAATT	0.483000													8	371					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918183	48918183	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:48918183G>T	ENST00000311378.4	+	2	2062	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D419Y	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	512	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCACGTGGACTGGGCATG	0.627000													17	32					6.94344e-10	7.66173e-10	1	1	0
CTTN	2017	broad.mit.edu	37	11	70281209	70281209	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:70281209G>T	ENST00000301843.8	+	18	1800	c.1594G>T	c.(1594-1596)Ggg>Tgg	p.G532W	CTTN_ENST00000376561.3_Missense_Mutation_p.G495W|CTTN_ENST00000346329.3_Missense_Mutation_p.G495W|CTTN_ENST00000538675.1_Missense_Mutation_p.G216W	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	532	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTGGTGGCGCGGGGTGTGCAA	0.617000													22	243					2.32416e-17	2.77076e-17	1	1	0
C12orf4	57102	broad.mit.edu	37	12	4639179	4639179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:4639179C>T	ENST00000261250.3	-	4	449	c.362G>A	c.(361-363)tGg>tAg	p.W121*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.W121*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	121										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATCTTCATCCCAGCTGGGTTC	0.348000													25	108					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890560	15890560	+	RNA	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:15890560G>T	ENST00000587443.2	-	0	237					NR_033864.1																						TCTGTTTTGGGGGTTGTGGAA	0.587000													6	46					0.248553	0.249373	1	1	0
P2RY6	5031	broad.mit.edu	37	11	73007627	73007627	+	Missense_Mutation	SNP	G	G	C	rs61745521	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:73007627G>C	ENST00000393590.2	+	2	363	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	P2RY6_ENST00000349767.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000393591.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000542092.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000540342.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000393592.2_Missense_Mutation_p.E22Q|P2RY6_ENST00000540124.1_Missense_Mutation_p.E22Q|P2RY6_ENST00000538328.1_Missense_Mutation_p.E22Q	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	22					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.E22*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TGTCTACCGCGAGAACTTCAA	0.607000													51	206					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148485671	148485671	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:148485671C>T	ENST00000325222.4	+	14	1781	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I	CUL1_ENST00000409469.1_Missense_Mutation_p.T501I|CUL1_ENST00000602748.1_Missense_Mutation_p.T501I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	501					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCGAGTACACCTCTAAACTT	0.408000													47	177					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451982	100451982	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100451982G>T	ENST00000354161.3	+	2	288	c.163G>T	c.(163-165)Gtt>Ttt	p.V55F	SLC12A9_ENST00000428758.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V55F|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V55F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	55						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTCAGCATAGTTGTTTTTCT	0.602000													14	34					1.99824e-07	2.16179e-07	1	1	0
SALL1	6299	broad.mit.edu	37	16	51175655	51175655	+	Missense_Mutation	SNP	C	C	T	rs113614842		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:51175655C>T	ENST00000440970.1	-	2	618	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	SALL1_ENST00000251020.4_Missense_Mutation_p.G160S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	160					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctg	0.632000													4	77					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558848	149558848	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558848G>C	ENST00000223210.4	+	7	2844	c.2599G>C	c.(2599-2601)Gag>Cag	p.E867Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCTGATTACAGAGGTGAACGC	0.582000													14	25					0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57509780	57509780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:57509780G>T	ENST00000566936.1	-	2	453	c.156C>A	c.(154-156)tgC>tgA	p.C52*	DOK4_ENST00000569548.1_Nonsense_Mutation_p.C52*|DOK4_ENST00000340099.4_Nonsense_Mutation_p.C52*|DOK4_ENST00000561918.1_5'UTR			Q8TEW6	DOK4_HUMAN	docking protein 4	52	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						AGCCCCGGAGGCACACCGACT	0.642000													13	37					0.000308642	0.000319684	1	1	0
PDCL	5082	broad.mit.edu	37	9	125588917	125588917	+	Silent	SNP	G	G	T	rs111903667	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:125588917G>T	ENST00000259467.4	-	2	315	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	50					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGATGCCTTCGCCTGCCAGCT	0.473000													18	53					3.41278e-10	3.78644e-10	1	1	0
OR9G4	283189	broad.mit.edu	37	11	56510691	56510691	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56510691C>T	ENST00000302957.3	-	1	596	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACATTTTTACCAATGGTGGTG	0.433000													10	61					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866475	7866475	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866475C>A	ENST00000378789.3	-	6	901	c.850G>T	c.(850-852)Ggg>Tgg	p.G284W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCACCTTCCCTTCCACAGCC	0.483000													44	78					9.58827e-17	1.13197e-16	1	1	0
OR5M9	390162	broad.mit.edu	37	11	56230518	56230518	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:56230518C>T	ENST00000279791.1	-	1	359	c.360G>A	c.(358-360)agG>agA	p.R120R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CGGCCATGTACCTGTCAAAGG	0.483000													32	133					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120549802	120549802	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120549802C>A	ENST00000354960.3	-	1	344	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W		NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	9					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	cgctgctgcCCGAAGCTGGGG	0.642000											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	65					7.07596e-05	7.39207e-05	1	1	0
HERC2	8924	broad.mit.edu	37	15	28473446	28473446	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:28473446G>A	ENST00000261609.7	-	35	5490	c.5382C>T	c.(5380-5382)acC>acT	p.T1794T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1794					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTGCTGCAGGGTGAGCATGC	0.622000													12	32					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428308	128428308	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:128428308C>T	ENST00000465342.2	+	2	1354	c.197C>T	c.(196-198)cCg>cTg	p.P66L	CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P66L|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGCCCCCCGCCGTATGAGTTA	0.657000													5	25					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295760	20295760	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:20295760A>G	ENST00000568211.1	+	1	153	c.153A>G	c.(151-153)tcA>tcG	p.S51S	OR4N2_ENST00000315947.1_Silent_p.S51S			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATAAAGTCAGACCCTGGGC	0.468000													19	353					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88052149	88052149	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88052149G>A	ENST00000393207.1	+	7	968	c.747G>A	c.(745-747)gaG>gaA	p.E249E	BANP_ENST00000393208.2_Silent_p.E218E|BANP_ENST00000355022.4_Silent_p.E218E|BANP_ENST00000479780.2_Silent_p.E218E|BANP_ENST00000286122.7_Silent_p.E249E|BANP_ENST00000355163.5_Silent_p.E224E|BANP_ENST00000538234.1_Silent_p.E257E	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	249	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCACGGCCGAGAAGATGGCGC	0.652000													14	43					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128055	83128055	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:83128055A>C	ENST00000329312.4	+	4	376	c.339A>C	c.(337-339)gcA>gcC	p.A113A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	113					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTAAAAAAGCAGAATATAAAA	0.368000													17	19					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151856051	151856051	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:151856051C>T	ENST00000355193.2	-	44	11785	c.11567G>A	c.(11566-11568)aGg>aAg	p.R3856K	KMT2C_ENST00000262189.6_Missense_Mutation_p.R3856K					lysine (K)-specific methyltransferase 2C																		CTCACCCGTCCTCTGAGTCCG	0.473000													72	165					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16216017	16216017	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:16216017C>T	ENST00000399408.2	+	25	3781	c.3606C>T	c.(3604-3606)agC>agT	p.S1202S	ABCC1_ENST00000351154.5_Silent_p.S1133S|ABCC1_ENST00000399410.3_Silent_p.S1192S|ABCC1_ENST00000349029.5_Silent_p.S1077S|ABCC1_ENST00000346370.5_Silent_p.S1136S|ABCC1_ENST00000345148.5_Silent_p.S1192S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1192	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATTACCCCAGCATCGTGGCCA	0.602000													20	38					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78768539	78768539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:78768539C>T	ENST00000258886.8	+	9	1182	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	IREB2_ENST00000560440.1_3'UTR	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	345							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GCACCTCAGGCAAGTAGGAGT	0.333000													11	105					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160258	157160258	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:157160258G>T	ENST00000295927.3	+	3	781	c.636G>T	c.(634-636)tgG>tgT	p.W212C	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	212	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCTGCATTTGGGTCAAAGCCA	0.418000													48	167					5.34276e-22	6.67022e-22	1	1	0
COX6A1	1337	broad.mit.edu	37	12	120876252	120876252	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:120876252C>T	ENST00000551806.1	+	2	103	c.103C>T	c.(103-105)Cct>Tct	p.P35S	COX6A1_ENST00000229379.2_Silent_p.Y58Y																							TGAATGTGTACCTGAAGTCGC	0.592000													23	70					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483384	26483384	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:26483384C>T	ENST00000295589.3	-	5	1357	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	388					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGATTGGGGCAGCAGGGGAA	0.617000													23	100					0	0	1	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215132	29215132	+	RNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:29215132A>G	ENST00000592347.1	-	0	409																											CCTTGAGCACATCATGTGCCA	0.453000													17	20					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549546	56549546	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:56549546C>A	ENST00000390649.3	+	10	2771	c.2771C>A	c.(2770-2772)gCc>gAc	p.A924D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	924						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCAGTGCGCCCTGCAGAAG	0.537000													26	57					3.1745e-13	3.64857e-13	1	1	0
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10346788C>T	ENST00000255381.2	-	40	5834	c.5724G>A	c.(5722-5724)gaG>gaA	p.E1908E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468000													54	173					0	0	1	0	0
IGLL1	3543	broad.mit.edu	37	22	23915609	23915609	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:23915609C>T	ENST00000330377.2	-	3	603	c.486G>A	c.(484-486)atG>atA	p.M162I	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	162	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						AGGGCGTGGTCATCTCCACGC	0.582000													24	98					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10559942	10559942	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:10559942C>T	ENST00000381765.3	+	4	585	c.59C>T	c.(58-60)aCg>aTg	p.T20M	HPCAL1_ENST00000307845.3_Missense_Mutation_p.T20M	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	20							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGGGAGAACACGGAGTTCACC	0.637000													24	62					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641567	106641567	+	RNA	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:106641567G>T	ENST00000390605.2	-	0	405																											TGTGTCTCTCGCACAGTAATA	0.532000													27	237					1.22384e-17	1.46187e-17	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732150	152732150	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:152732150C>T	ENST00000368773.1	+	2	144	c.86C>T	c.(85-87)cCc>cTc	p.P29L	KPRP_ENST00000606109.1_Missense_Mutation_p.P29L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	29	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCAATCCCCCTTTGCCCAG	0.582000													20	146					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095532	51095532	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51095532G>C	ENST00000395542.2	-	12	3691	c.3507C>G	c.(3505-3507)agC>agG	p.S1169R	COBL_ENST00000265136.7_Missense_Mutation_p.S1087R			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1087	WH2 2.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCAAAAATGCTGGGTGGCC	0.493000													58	136					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94826034	94826034	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:94826034G>A	ENST00000285949.5	+	5	1183	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	395					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGCACCTTCGAGCTCGACGT	0.756000													7	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615427	179615427	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:179615427T>A	ENST00000360870.5	-	46	11922	c.11700A>T	c.(11698-11700)atA>atT	p.I3900I	TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTTTTTATTCTTTCAC	0.338000													4	106					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721197	88721197	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88721197C>T	ENST00000301012.3	-	8	945	c.916G>A	c.(916-918)Gcg>Acg	p.A306T		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	306					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGGGGCCCGCGTCAAAGGTG	0.622000													16	42					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973941	44973941	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973941C>T	ENST00000340446.4	-	1	2541	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	750						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTACCAGAGCCTCATCTTCAG	0.468000													33	52					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36855589	36855589	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:36855589C>T	ENST00000279024.4	-	7	2290	c.2019G>A	c.(2017-2019)gcG>gcA	p.A673A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	673								p.A673A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTGGAGAGCCGCCTCCTTCT	0.592000													5	52					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	A	rs3211483		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428000									Familial Paragangliomas				4	165					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129591784	129591784	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:129591784A>T	ENST00000421865.2	+	17	2387	c.2338A>T	c.(2338-2340)Aca>Tca	p.T780S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	780	Laminin EGF-like 6.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAAGGATCACACAGGTGGCCC	0.418000													23	130					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967822	48967822	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:48967822G>A	ENST00000391884.1	+	2	1575	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	KCNJ14_ENST00000342291.2_Missense_Mutation_p.D367N			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	367						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TAAGGAGCTGGATGAACGGGC	0.547000													21	36					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114117978	114117978	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:114117978C>A	ENST00000335953.4	+	6	2063	c.1683C>A	c.(1681-1683)ctC>ctA	p.L561L	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.L561L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	561					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAGCACACTCAAGAGCCACA	0.577000													29	30					1.16021e-09	1.2756e-09	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111155686	111155686	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:111155686A>G	ENST00000262839.2	-	3	1651	c.733T>C	c.(733-735)Tct>Cct	p.S245P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	245					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACTGCTGAGAGAGCTCCTCA	0.547000													99	124					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204963	66204963	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66204963C>A	ENST00000503581.1	-	4	878	c.341G>T	c.(340-342)tGt>tTt	p.C114F	EYS_ENST00000342421.5_Missense_Mutation_p.C114F|EYS_ENST00000370621.3_Missense_Mutation_p.C114F|EYS_ENST00000370618.3_Missense_Mutation_p.C114F|EYS_ENST00000370616.2_Missense_Mutation_p.C114F|EYS_ENST00000393380.2_Missense_Mutation_p.C114F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	114					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTTGCACACAGCCAACGAA	0.358000													25	74					1.36565e-18	1.64418e-18	1	1	0
DAGLB	221955	broad.mit.edu	37	7	6474645	6474645	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:6474645G>A	ENST00000297056.6	-	4	595	c.426C>T	c.(424-426)atC>atT	p.I142I	DAGLB_ENST00000436575.1_Silent_p.I101I|DAGLB_ENST00000428902.2_Silent_p.I15I|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	142					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGATGATGATCCAACTGC	0.567000													21	80					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414145	157414145	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:157414145C>T	ENST00000389413.3	-	14	2269	c.2166G>A	c.(2164-2166)gcG>gcA	p.A722A	PTPRN2_ENST00000389416.4_Silent_p.A734A|PTPRN2_ENST00000389418.4_Silent_p.A751A|PTPRN2_ENST00000409483.1_Silent_p.A713A|PTPRN2_ENST00000404321.2_Silent_p.A774A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	751						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCGCACAGCGCTTCCCACT	0.617000													7	318					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147845449	147845449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:147845449G>T	ENST00000314512.6	-	7	1279	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*	HTR4_ENST00000521530.1_Intron|HTR4_ENST00000521735.1_Nonsense_Mutation_p.C372*|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0			C -> Y (in dbSNP:rs34826744).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGGTCTATTGCAGAAGAGCA	0.438000													35	80					6.50621e-10	7.19232e-10	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166201420	166201420	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:166201420T>C	ENST00000357398.3	+	16	3208	c.2919_splice	c.e16+1	p.V973_splice	SCN2A_ENST00000375437.2_Splice_Site_p.V973_splice|SCN2A_ENST00000283256.6_Splice_Site_p.V973_splice|SCN2A_ENST00000375427.2_Splice_Site_p.V973_splice			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	973					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGAAATCTAGTGGTATGTAGC	0.363000													32	138					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75672777	75672777	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672777C>A	ENST00000393284.3	-	17	1643	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.D170Y|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GACACTTCATCAGACTTGCTG	0.348000													32	120					3.90053e-15	4.54314e-15	1	1	0
CAPS2	84698	broad.mit.edu	37	12	75672699	75672699	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:75672699T>A	ENST00000393284.3	-	17	1721	c.1120A>T	c.(1120-1122)Aac>Tac	p.N374Y	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Missense_Mutation_p.N196Y|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409004.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CGTAAGATGTTAACAAAGTCT	0.333000													21	63					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158870040	158870040	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:158870040A>C	ENST00000367097.3	+	4	1913	c.556A>C	c.(556-558)Acg>Ccg	p.T186P	TULP4_ENST00000367094.2_Missense_Mutation_p.T186P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	186					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGTTTGGCACGGCCGATGG	0.567000													14	34					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927359	43927359	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:43927359A>T	ENST00000282406.4	+	8	1372	c.1262A>T	c.(1261-1263)aAc>aTc	p.N421I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	421						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGCATCCTAACTCACTCTCT	0.428000													61	120					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058726	67058726	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:67058726C>A	ENST00000295568.4	+	4	1776	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T	KBTBD8_ENST00000417314.2_Missense_Mutation_p.P575T|KBTBD8_ENST00000460576.1_Missense_Mutation_p.P133T	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	575										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTATGAGACCCCAGATCGGCT	0.443000													55	91					4.70178e-45	6.08231e-45	1	1	0
MARC1	64757	broad.mit.edu	37	1	220969996	220969996	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:220969996T>C	ENST00000366910.5	+	3	647	c.461T>C	c.(460-462)cTg>cCg	p.L154P	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	154							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GTGCACGGCCTGGAGATAGAG	0.567000													20	40					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93621932	93621932	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:93621932C>G	ENST00000370282.3	-	3	881	c.396G>C	c.(394-396)caG>caC	p.Q132H	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.Q132H|TMED5_ENST00000370280.1_Missense_Mutation_p.Q132H	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	132					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTTCTTGTGCCTGTTCTCCCA	0.353000													13	59					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55996636	55996636	+	Missense_Mutation	SNP	C	C	G	rs61731390		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:55996636C>G	ENST00000373965.2	-	9	1326	c.932G>C	c.(931-933)cGg>cCg	p.R311P	PCDH15_ENST00000395433.1_Missense_Mutation_p.R289P|PCDH15_ENST00000395446.1_Missense_Mutation_p.R311P|PCDH15_ENST00000320301.6_Missense_Mutation_p.R311P|PCDH15_ENST00000361849.3_Missense_Mutation_p.R311P|PCDH15_ENST00000395430.1_Missense_Mutation_p.R311P|PCDH15_ENST00000414778.1_Missense_Mutation_p.R316P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R274P|PCDH15_ENST00000373955.1_Missense_Mutation_p.R311P|PCDH15_ENST00000437009.1_Missense_Mutation_p.R311P|PCDH15_ENST00000373957.3_Missense_Mutation_p.R289P|PCDH15_ENST00000395438.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395440.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395442.1_Missense_Mutation_p.R311P|PCDH15_ENST00000395445.1_Missense_Mutation_p.R311P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	311	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R311Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGAATATTCCGGTCCTGATC	0.378000										HNSCC(58;0.16)			52	114					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187173194	187173194	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:187173194C>A	ENST00000264690.6	+	11	1355	c.1168C>A	c.(1168-1170)Cgc>Agc	p.R390S	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AACAAGCACACGCATTGTTGG	0.498000													17	73					3.51602e-12	4.00325e-12	1	1	0
APH1A	51107	broad.mit.edu	37	1	150238998	150238998	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150238998G>A	ENST00000360244.4	-	6	1160	c.668C>T	c.(667-669)tCc>tTc	p.S223F	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.S153F|APH1A_ENST00000369109.3_Missense_Mutation_p.S223F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	223					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCCCATGGAAACAGTGAC	0.542000													4	42					0	0	1	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													4	21					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957435	121957435	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:121957435G>T	ENST00000379692.4	-	4	2217	c.1691C>A	c.(1690-1692)aCt>aAt	p.T564N		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	564	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAACTTTCTAGTTTTCACAAC	0.378000													54	155					9.72345e-25	1.22653e-24	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518400	108518400	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:108518400A>T	ENST00000375915.2	-	1	683	c.545T>A	c.(544-546)tTc>tAc	p.F182Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	182						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCACCGTGAAGCACTGGCC	0.667000													23	72					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727788	35727788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:35727788G>T	ENST00000440995.2	+	21	2911	c.2911G>T	c.(2911-2913)Gga>Tga	p.G971*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G976*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	976					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCTAAAGGAAAATCATC	0.383000													25	73					1.36565e-18	1.64418e-18	1	1	0
ZNF343	79175	broad.mit.edu	37	20	2464782	2464782	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:2464782C>T	ENST00000278772.4	-	6	1312	c.825G>A	c.(823-825)ggG>ggA	p.G275G	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TAAAGCTTCGCCCACAATCAC	0.468000													36	83					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120193113	120193113	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:120193113A>T	ENST00000450251.1	+	12	2642	c.2098A>T	c.(2098-2100)Aat>Tat	p.N700Y	USP53_ENST00000274030.6_Missense_Mutation_p.N700Y			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	700					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTTCTACTAATTTGGACTC	0.388000													66	128					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258761	51258761	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51258761C>A	ENST00000395542.2	-	4	655	c.471G>T	c.(469-471)ttG>ttT	p.L157F	COBL_ENST00000395540.2_Missense_Mutation_p.L157F|COBL_ENST00000441453.1_Missense_Mutation_p.L157F|COBL_ENST00000265136.7_Missense_Mutation_p.L157F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	157										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTCACGACCAAACGCACAG	0.453000													13	25					4.3838e-07	4.71744e-07	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5398133	5398133	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5398133A>G	ENST00000341928.2	-	17	2699	c.2359T>C	c.(2359-2361)Tct>Cct	p.S787P	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787P|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618P|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCCAGAAGACTGCTTAGTC	0.423000													89	418					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764100	77764100	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:77764100G>C	ENST00000521891.2	+	10	5391	c.4943G>C	c.(4942-4944)gGg>gCg	p.G1648A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1603A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1603A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1622A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1603	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTGGCCAGGGGATGTTAGAT	0.473000										HNSCC(33;0.089)			25	59					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957916	74957916	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:74957916C>A	ENST00000370891.2	+	25	2636	c.2620C>A	c.(2620-2622)Cta>Ata	p.L874I	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L874I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L773I|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GGAATATGCTCTAAATGCAAG	0.438000													48	123					1.02687e-29	1.31439e-29	1	1	0
CDH9	1007	broad.mit.edu	37	5	26903811	26903811	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:26903811C>T	ENST00000231021.4	-	6	1106	c.934G>A	c.(934-936)Ggt>Agt	p.G312S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGTCTGCACCATCTCCTTCA	0.428000													41	253					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295525	32295525	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32295525C>T	ENST00000409299.3	-	4	718	c.626G>A	c.(625-627)cGt>cAt	p.R209H	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	209						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATTGGAGGGACGGCTCTTGTT	0.542000													24	81					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40591145	40591145	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:40591145T>C	ENST00000260402.3	-	9	953	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	PLCB2_ENST00000557821.1_Missense_Mutation_p.Y235C|PLCB2_ENST00000456256.2_Missense_Mutation_p.Y235C	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	235					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTTCGTCATGTAGGGTTTGGC	0.572000													54	102					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872217	48872217	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:48872217A>T	ENST00000394754.1	+	7	2575	c.2461A>T	c.(2461-2463)Att>Ttt	p.I821F	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I83F|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I117F|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I821F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I821F|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					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)			TGGTTATCCCATTCATGTACC	0.333000													22	61					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096393	73096393	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:73096393C>T	ENST00000450736.2	+	4	1050	c.635C>T	c.(634-636)gCa>gTa	p.A212V	SLC16A5_ENST00000329783.4_Missense_Mutation_p.A212V|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A212V|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A252V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	212					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GAGACACCTGCACTTGGCTGC	0.627000													9	45					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43023656	43023656	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:43023656T>C	ENST00000361740.4	-	6	600	c.601A>G	c.(601-603)Atc>Gtc	p.I201V	CYB5R3_ENST00000352397.5_Missense_Mutation_p.I168V|CYB5R3_ENST00000402438.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000396303.3_Missense_Mutation_p.I145V|CYB5R3_ENST00000407332.1_Missense_Mutation_p.I145V|CYB5R3_ENST00000407623.3_Missense_Mutation_p.I145V	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	168					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GTCCTGATGATAGGGTTGGAC	0.602000													34	90					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57107449	57107449	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:57107449G>C	ENST00000454682.1	-	6	6123	c.5842C>G	c.(5842-5844)Ctt>Gtt	p.L1948V	NACA_ENST00000393891.4_Missense_Mutation_p.L85V|NACA_ENST00000552540.1_Missense_Mutation_p.L85V|NACA_ENST00000546392.1_Missense_Mutation_p.L85V|NACA_ENST00000356769.3_Missense_Mutation_p.L85V|NACA_ENST00000548563.1_Missense_Mutation_p.L6V|NACA_ENST00000550952.1_Missense_Mutation_p.L795V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	85					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCTGCCGAAGACCCAGTTTG	0.403000			T	BCL6	NHL								29	306					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101757450	101757450	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:101757450G>T	ENST00000261637.4	+	45	6061	c.5887G>T	c.(5887-5889)Gac>Tac	p.D1963Y		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1963					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAGTTACGACTCTTATGA	0.393000													10	66					4.3838e-07	4.71744e-07	1	1	0
PAN3	255967	broad.mit.edu	37	13	28866542	28866542	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:28866542A>G	ENST00000399613.1	+	18	2010	c.1947A>G	c.(1945-1947)aaA>aaG	p.K649K	PAN3_ENST00000380958.3_Silent_p.K849K|PAN3_ENST00000282391.5_Silent_p.K537K			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	849	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGCCAGAAAAAATAAGCCTGA	0.353000													41	55					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266826	124266826	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124266826T>A	ENST00000395571.3	-	3	1978	c.1361A>T	c.(1360-1362)aAa>aTa	p.K454I	ZHX1_ENST00000297857.2_Missense_Mutation_p.K454I|ZHX1_ENST00000522655.1_Missense_Mutation_p.K454I|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	454	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTTTCATGTTTGACACTTTG	0.403000													83	340					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140693	239140693	+	RNA	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:239140693G>A	ENST00000456601.1	+	0	369																											CCGGCTGGTAGAAGGAATTCT	0.527000													11	27					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053850	133053850	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:133053850A>T	ENST00000262283.5	-	8	953	c.854T>A	c.(853-855)cTc>cAc	p.L285H	OC90_ENST00000603859.1_Missense_Mutation_p.L89H|OC90_ENST00000254627.3_Missense_Mutation_p.L89H|OC90_ENST00000443356.2_Missense_Mutation_p.L89H			Q02509	OC90_HUMAN	otoconin 90	89					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCGGGGGCAGAGACCAGCCAC	0.527000													52	42					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41039604	41039604	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:41039604T>C	ENST00000399564.4	-	20	2457	c.2007A>G	c.(2005-2007)ttA>ttG	p.L669L	MROH2B_ENST00000506092.2_Silent_p.L224L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TAAGAACTTTTAAAACAATAT	0.308000													7	44					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136343499	136343499	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:136343499G>C	ENST00000371899.4	-	2	209	c.132C>G	c.(130-132)gcC>gcG	p.A44A	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.A44A	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	44						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGAGCACTGCGGCGAAGGTGG	0.587000													67	159					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67768910	67768910	+	Silent	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67768910A>C	ENST00000317506.3	-	6	742	c.627T>G	c.(625-627)ccT>ccG	p.P209P	RANBP10_ENST00000411657.2_Silent_p.P92P|RANBP10_ENST00000602677.1_Silent_p.P209P|RANBP10_ENST00000425512.2_Silent_p.P77P|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.P153P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	209	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAATCTCCCCAGGTGTCTGCA	0.597000													16	43					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60234504	60234504	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:60234504T>A	ENST00000534668.1	+	6	935	c.646T>A	c.(646-648)Tgg>Agg	p.W216R	MS4A1_ENST00000389939.2_Missense_Mutation_p.W216R|MS4A1_ENST00000532073.1_Missense_Mutation_p.W203R|MS4A1_ENST00000345732.4_Missense_Mutation_p.W216R|MS4A1_ENST00000528313.1_Missense_Mutation_p.W49R	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TGAGAATGAATGGAAAAGAAC	0.433000													39	135					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534474	92534474	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92534474T>C	ENST00000298047.6	+	9	8312	c.8295T>C	c.(8293-8295)atT>atC	p.I2765I	FAT3_ENST00000525166.1_Silent_p.I2615I|FAT3_ENST00000409404.2_Silent_p.I2765I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2765	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGCACTATTAAGCTTGACA	0.458000										TCGA Ovarian(4;0.039)			11	40					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72629156	72629156	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:72629156C>T	ENST00000273951.8	-	6	1013	c.670G>A	c.(670-672)Gct>Act	p.A224T	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.A243T|GC_ENST00000513476.1_Missense_Mutation_p.A224T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	224	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CCATAAGCAGCATATTGTGAG	0.363000													19	88					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50904401	50904401	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:50904401C>T	ENST00000380817.2	-	9	1183	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	SBF1_ENST00000390679.3_Missense_Mutation_p.V334M|SBF1_ENST00000348911.6_Missense_Mutation_p.V335M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	334					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTCAGCACACTGTGCGTC	0.622000													18	89					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911788	88911788	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88911788C>A	ENST00000263321.5	+	1	1169	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	223					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.Q223K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACAAGAAATCCAGAAGCTGAC	0.468000													42	147					1.57019e-19	1.91702e-19	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103471837	103471837	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:103471837G>T	ENST00000358392.2	-	16	2071	c.1754C>A	c.(1753-1755)aCg>aAg	p.T585K	COL11A1_ENST00000512756.1_Missense_Mutation_p.T457K|COL11A1_ENST00000353414.4_Missense_Mutation_p.T534K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348000													6	62					0.0215528	0.0218766	1	1	0
RBM24	221662	broad.mit.edu	37	6	17292144	17292144	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:17292144G>A	ENST00000379052.5	+	4	741	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A111T|RBM24_ENST00000318204.5_Missense_Mutation_p.A124T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	169	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			tgctgccgccgccgctgctgc	0.597000													4	74					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5810948	5810948	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:5810948C>T	ENST00000381095.3	-	6	2988	c.2361G>A	c.(2359-2361)acG>acA	p.T787T	NLGN4X_ENST00000381093.2_Silent_p.T807T|NLGN4X_ENST00000275857.6_Silent_p.T787T|NLGN4X_ENST00000538097.1_Silent_p.T787T|NLGN4X_ENST00000381092.1_Silent_p.T787T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	787					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCTGCATCCCCGTCAGTGTGT	0.517000													23	59					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174210701	174210701	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:174210701G>T	ENST00000251507.4	+	5	797	c.623G>T	c.(622-624)gGa>gTa	p.G208V	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G171V	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	208	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGACATGACGGAACAACAGAG	0.383000													42	112					8.20599e-20	1.00387e-19	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73848457	73848457	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73848457C>T	ENST00000523207.1	+	3	1455	c.867C>T	c.(865-867)agC>agT	p.S289S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	289					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAACAAGAGCGTGCTGCAGT	0.502000													46	74					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655423	159655423	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:159655423C>A	ENST00000297267.9	+	11	4079	c.3879C>A	c.(3877-3879)acC>acA	p.T1293T	FNDC1_ENST00000340366.6_Silent_p.T1230T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1293						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTCCACCACCCCGATGCTGT	0.642000													12	25					1.49906e-05	1.59062e-05	1	1	0
MUC17	140453	broad.mit.edu	37	7	100678797	100678797	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100678797C>A	ENST00000306151.4	+	3	4164	c.4100C>A	c.(4099-4101)cCt>cAt	p.P1367H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1367	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAGCACACCTGTGACCACT	0.458000													147	394					5.68993e-56	7.40788e-56	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121415170	121415170	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:121415170A>T	ENST00000393667.3	-	13	4310	c.4200T>A	c.(4198-4200)gaT>gaA	p.D1400E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1395E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1395					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGCAGTTCATCCAGTTTAG	0.418000													108	173					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58064475	58064475	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:58064475G>C	ENST00000357272.4	+	3	738	c.573G>C	c.(571-573)ccG>ccC	p.P191P	FLNB_ENST00000490882.1_Silent_p.P191P|FLNB_ENST00000493452.1_Silent_p.P22P|FLNB_ENST00000295956.4_Silent_p.P191P|FLNB_ENST00000358537.3_Silent_p.P191P|FLNB_ENST00000348383.5_Silent_p.P191P|FLNB_ENST00000429972.2_Silent_p.P191P|FLNB_ENST00000419752.2_Silent_p.P22P			O75369	FLNB_HUMAN	filamin B, beta	191	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGACCCGCAGAAGCCTG	0.517000													8	28					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807242	22807242	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:22807242A>G	ENST00000361524.3	-	4	788	c.640T>C	c.(640-642)Tct>Cct	p.S214P	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S214P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	214					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGGAACTAGAGGACAGAAAC	0.488000			T	PAX5	ALL								21	46					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142365	54142365	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:54142365A>T	ENST00000265572.3	-	4	932	c.635T>A	c.(634-636)tTg>tAg	p.L212*	OPRK1_ENST00000520287.1_Nonsense_Mutation_p.L212*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.L123*|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	212					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGAACTGCAAGGAGCACTC	0.458000													11	34					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973940	44973940	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:44973940C>A	ENST00000340446.4	-	1	2542	c.2251G>T	c.(2251-2253)Gct>Tct	p.A751S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	751						cilium		p.A751P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACCAGAGCCTCATCTTCA	0.468000													35	52					9.04072e-19	1.09279e-18	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20431047	20431047	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:20431047C>G	ENST00000222573.3	+	7	1666	c.982C>G	c.(982-984)Ctt>Gtt	p.L328V	ITGB8_ENST00000537992.1_Missense_Mutation_p.L193V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	328	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTAGGCCAACTTTCAGAGAA	0.299000													23	75					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489693	62489693	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62489693C>T	ENST00000301785.5	-	7	1447	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E419K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	419	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGAAGGGCTCCTCCTTCTGA	0.517000													60	97					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767779	143767779	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:143767779G>C	ENST00000419275.1	-	1	102	c.70C>G	c.(70-72)Cag>Gag	p.Q24E		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	24	PPIase cyclophilin-type.			Q -> L (in Ref. 2; AAI30379/AAI30377).	protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCTGCAAACTGTTTGATGGAG	0.483000													51	553					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586285	143586285	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:143586285T>C	ENST00000507359.2	+	2	1099	c.8T>C	c.(7-9)cTg>cCg	p.L3P	KCTD16_ENST00000512467.1_Missense_Mutation_p.L3P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	3						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACAATGGCTCTGAGTGGAAAC	0.458000													18	51					0	0	1	0	0
PROK2	60675	broad.mit.edu	37	3	71830630	71830630	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:71830630T>A	ENST00000353065.3	-	2	363	c.210A>T	c.(208-210)ccA>ccT	p.P70P	PROK2_ENST00000295619.3_Silent_p.P70P	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN	prokineticin 2	70					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TACGAGTCAGTGGATGGCAGC	0.468000													24	100					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587665	110587665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110587665C>T	ENST00000399066.3	-	6	2180	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	SYBU_ENST00000529175.1_Missense_Mutation_p.V282I|SYBU_ENST00000419099.1_Missense_Mutation_p.V487I|SYBU_ENST00000446070.2_Missense_Mutation_p.V487I|SYBU_ENST00000533065.1_Missense_Mutation_p.V369I|SYBU_ENST00000533895.1_Missense_Mutation_p.V487I|SYBU_ENST00000528331.1_Missense_Mutation_p.V369I|SYBU_ENST00000408908.2_Missense_Mutation_p.V488I|SYBU_ENST00000433638.1_Missense_Mutation_p.V488I|SYBU_ENST00000424158.2_Missense_Mutation_p.V493I|SYBU_ENST00000408889.3_Missense_Mutation_p.V369I|SYBU_ENST00000422135.1_Missense_Mutation_p.V488I|SYBU_ENST00000532779.1_Missense_Mutation_p.V420I|SYBU_ENST00000440310.1_Missense_Mutation_p.V488I|SYBU_ENST00000276646.9_Missense_Mutation_p.V488I|SYBU_ENST00000533171.1_Missense_Mutation_p.V488I|SYBU_ENST00000528647.1_Missense_Mutation_p.V487I|SYBU_ENST00000529690.1_Missense_Mutation_p.V358I	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	488						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCGGTCTGAACGGCTCGCTCC	0.627000													11	64					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549199	27549199	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:27549199C>T	ENST00000356183.4	-	4	673	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G220R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	220						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTAATCAGCCCGTTTTTGTTC	0.463000													27	108					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641592	66641592	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:66641592C>T	ENST00000261233.4	+	12	1853	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	IRAK3_ENST00000457197.2_Missense_Mutation_p.P417S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	478					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACCAAGTATTCCAGTGGAAGA	0.423000													21	86					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32378850	32378850	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:32378850C>T	ENST00000375200.1	+	15	2457	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.L691F|RP4-553F4.6_ENST00000443171.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCGTGCCCACCTCGCCGAGCA	0.602000													4	72					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785837	140785837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:140785837C>A	ENST00000370515.3	-	2	412	c.79G>T	c.(79-81)Gag>Tag	p.E27*		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTCGAGGTCTCCGGCATCTGT	0.483000													67	321					3.94839e-29	5.04332e-29	1	1	0
YBEY	54059	broad.mit.edu	37	21	47716087	47716087	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:47716087C>T	ENST00000329319.3	+	4	749	c.351C>T	c.(349-351)acC>acT	p.T117T	YBEY_ENST00000397694.1_Silent_p.T72T|YBEY_ENST00000339195.6_Silent_p.T74T|YBEY_ENST00000397692.1_Silent_p.T29T|YBEY_ENST00000397701.4_Silent_p.T117T|YBEY_ENST00000397691.1_Silent_p.T117T	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	117							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TGACGGCCACCCACGGACTCT	0.622000													11	69					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647275	34647275	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:34647275A>G	ENST00000591619.1	+	7	1773	c.987A>G	c.(985-987)gaA>gaG	p.E329E	KIAA1328_ENST00000586135.1_Silent_p.E49E|KIAA1328_ENST00000280020.5_Silent_p.E333E|KIAA1328_ENST00000543923.1_Silent_p.E225E|KIAA1328_ENST00000435985.2_Silent_p.E49E|KIAA1328_ENST00000586501.1_Silent_p.E49E			Q86T90	K1328_HUMAN	KIAA1328	333										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CACATCCAGAATCATGCAGTT	0.463000													18	29					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128331592	128331592	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:128331592G>C	ENST00000389524.4	+	7	743	c.690G>C	c.(688-690)gcG>gcC	p.A230A	MYO7B_ENST00000409816.2_Silent_p.A230A|MYO7B_ENST00000428314.1_Silent_p.A230A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCGAGGGCGCGCGCATCGAGC	0.582000													27	110					0	0	1	0	0
APRT	353	broad.mit.edu	37	16	88876924	88876924	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000426324.2_Silent_p.A76A|APRT_ENST00000563655.1_Intron	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637000													6	32					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845314	62845314	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:62845314G>T	ENST00000512091.1	+	17	3382	c.2635G>T	c.(2635-2637)Gtg>Ttg	p.V879L	LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	866					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V879L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTCTGGATGTGATCACGTG	0.448000													67	174					5.05157e-50	6.56272e-50	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130963555	130963555	+	Silent	SNP	G	G	T	rs138967663		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:130963555G>T	ENST00000261655.4	-	3	167	c.4C>A	c.(4-6)Cga>Aga	p.R2R	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617000													19	48					1.96292e-10	2.18582e-10	1	1	0
OR1A2	26189	broad.mit.edu	37	17	3101525	3101525	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:3101525G>C	ENST00000381951.1	+	1	713	c.713G>C	c.(712-714)tGc>tCc	p.C238S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAAGCCTTCTGCACCTGTGGC	0.443000													56	172					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33596097	33596097	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:33596097G>A	ENST00000504830.1	-	17	2931	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P781S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	866	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGTTTCTGGGTCACAGAAT	0.517000										HNSCC(64;0.19)			28	171					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63882861	63882861	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:63882861G>A	ENST00000268049.7	+	16	1657	c.1331_splice	c.e16-1	p.V445_splice	USP3_ENST00000558285.1_Splice_Site_p.V450_splice|USP3_ENST00000540797.1_Splice_Site_p.V423_splice|USP3_ENST00000539772.1_Splice_Site_p.V218_splice|USP3_ENST00000380324.3_Splice_Site_p.V467_splice|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000559711.1_Splice_Site_p.V378_splice|USP3-AS1_ENST00000559861.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	467					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTTTACAGGGTTGGTTCTGG	0.388000													31	106					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660538	125660538	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:125660538C>G	ENST00000431078.1	+	22	3877	c.3513C>G	c.(3511-3513)aaC>aaG	p.N1171K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1171	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAGTACAACCACATAGCAC	0.502000													13	34					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381193	68381193	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:68381193C>T	ENST00000361478.1	-	2	2266	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	PJA1_ENST00000374571.4_Missense_Mutation_p.G575D|PJA1_ENST00000374583.1_Missense_Mutation_p.G630D|PJA1_ENST00000374584.3_Missense_Mutation_p.G442D	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	630							zinc ion binding	p.G630D(1)|p.G442D(1)|p.G442V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGGCAGGTGCCTGACTTCTG	0.537000													8	21					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900339	13900339	+	Nonsense_Mutation	SNP	G	G	C	rs139916610	byFrequency	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:13900339G>C	ENST00000265104.4	-	15	2339	c.2235C>G	c.(2233-2235)taC>taG	p.Y745*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	745	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTCCTTTTGTATCTATCTC	0.388000									Kartagener syndrome				25	97					0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127476453	127476453	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:127476453C>T	ENST00000356698.4	+	4	1093	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RSPO3_ENST00000368317.3_Silent_p.F168F	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	168	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CATGTGGCTTCAAAAGAGGGA	0.468000													68	116					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866474	7866474	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:7866474C>A	ENST00000378789.3	-	6	902	c.851G>T	c.(850-852)gGg>gTg	p.G284V		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	284	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTCCACCTTCCCTTCCACAGC	0.483000													43	79					3.4345e-17	4.08645e-17	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113259258	113259258	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:113259258C>T	ENST00000297405.5	-	64	10457	c.10213G>A	c.(10213-10215)Gaa>Aaa	p.E3405K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E3335K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3365K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3236K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3405	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTATGCATTCAGGCTGAATC	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	30					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780522	88780522	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:88780522T>A	ENST00000418177.2	-	2	886	c.519A>T	c.(517-519)tcA>tcT	p.S173S	GRM5_ENST00000393297.1_Silent_p.S173S|GRM5_ENST00000305432.5_Silent_p.S173S|GRM5_ENST00000305447.4_Silent_p.S173S|GRM5_ENST00000393294.3_Silent_p.S173S|GRM5_ENST00000455756.2_Silent_p.S173S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	173					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)	TGCTGGTTGCTGAGTAAGCAA	0.488000													8	88					0	0	1	0	0
TMEM106B	54664	broad.mit.edu	37	7	12263945	12263945	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:12263945C>T	ENST00000396667.2	+	5	697	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TMEM106B_ENST00000396668.3_Silent_p.Y125Y	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	125						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACGTGAAATACATTGGTGTAA	0.343000													36	148					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035828	95035828	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:95035828C>G	ENST00000557004.1	+	5	1601	c.1180C>G	c.(1180-1182)Cgc>Ggc	p.R394G	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R394G|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R394G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	394					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGACCAATCGCCACATCCT	0.582000													11	47					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115004938	115004938	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:115004938C>A	ENST00000360383.3	+	5	552	c.354C>A	c.(352-354)tcC>tcA	p.S118S	CDC16_ENST00000252457.5_Silent_p.S117S|CDC16_ENST00000252458.6_Silent_p.S24S|CDC16_ENST00000375308.1_Silent_p.S24S|CDC16_ENST00000356221.3_Silent_p.S118S|CDC16_ENST00000375312.3_Silent_p.S24S|CDC16_ENST00000375310.1_Silent_p.S24S	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGATCCTTCCAGCGACTGGG	0.448000													16	49					1.15088e-07	1.25176e-07	1	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715054	92715054	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:92715054G>T	ENST00000257068.2	+	2	671	c.665G>T	c.(664-666)cGc>cTc	p.R222L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	222					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGCTACCTGCGCATCTGGGTG	0.602000													30	48					8.58068e-18	1.02698e-17	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72190465	72190465	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:72190465C>T	ENST00000555818.1	+	16	4721	c.4373C>T	c.(4372-4374)cCa>cTa	p.P1458L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1437L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P912L|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1458	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCTCGCACCAtccttctcc	0.557000													6	112					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479875	73479875	+	Splice_Site	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:73479875A>G	ENST00000523207.1	+	2	495		c.e2-1			NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2						regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTTTCTTCCAGCTTTGTCAG	0.428000													14	20					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635352	79635352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:79635352C>G	ENST00000376708.1	+	1	782	c.782C>G	c.(781-783)gCg>gGg	p.A261G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	261	Poly-Ala.				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						gcggccgcGGCGTCCACGTCA	0.721000													12	36					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55513486	55513486	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55513486C>T	ENST00000219070.4	+	1	604	c.95C>T	c.(94-96)tCg>tTg	p.S32L	MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	32					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCCGCGCCGTCGCCCATCATC	0.657000													6	32					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150444653	150444653	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:150444653C>T	ENST00000389378.2	-	2	592	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TNIP1_ENST00000523200.1_Missense_Mutation_p.E2K|TNIP1_ENST00000522226.1_Missense_Mutation_p.E2K|TNIP1_ENST00000518977.1_Missense_Mutation_p.E2K|TNIP1_ENST00000523338.1_Missense_Mutation_p.E2K|TNIP1_ENST00000521591.1_Missense_Mutation_p.E2K|TNIP1_ENST00000315050.7_Missense_Mutation_p.E2K|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.E2K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	2					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCCCTTCCATGAGGGTA	0.627000													9	16					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788697	18788697	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:18788697A>G	ENST00000406451.3	+	14	2120	c.1970A>G	c.(1969-1971)cAt>cGt	p.H657R	HDAC9_ENST00000441542.2_Missense_Mutation_p.H660R|HDAC9_ENST00000401921.1_Missense_Mutation_p.H616R|HDAC9_ENST00000432645.2_Missense_Mutation_p.H657R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	657	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACCCTGAGCATGCTGGACGA	0.443000													6	34					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669598	80669598	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:80669598C>T	ENST00000557010.1	-	4	641	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	DIO2_ENST00000438257.4_Missense_Mutation_p.V86M|DIO2_ENST00000555750.1_Missense_Mutation_p.V122M|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.V86M	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	86					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACATGCACCACACTGGAATTG	0.458000													4	13					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536546	37536546	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:37536546G>A	ENST00000299824.1	+	9	1185	c.996G>A	c.(994-996)ttG>ttA	p.L332L	PPP1R16B_ENST00000373331.2_Silent_p.L290L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	332					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGTCATCCTTGAGCCGGAGGA	0.607000													18	62					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81196109	81196109	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81196109A>G	ENST00000312465.7	+	2	628	c.402A>G	c.(400-402)cgA>cgG	p.R134R	FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	134					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGGAATACGAGGAGTTTTCA	0.343000													20	49					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148977395	148977395	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:148977395G>A	ENST00000333677.6	+	2	226	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	21					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGGAAGGTAGGGCCTCTGAGG	0.592000													17	26					0	0	1	0	0
CKLF	51192	broad.mit.edu	37	16	66599843	66599843	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:66599843C>T	ENST00000264001.4	+	4	537	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CKLF_ENST00000417030.2_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000362093.4_Missense_Mutation_p.R45W|CKLF_ENST00000345436.4_Missense_Mutation_p.R98W|CKLF_ENST00000351137.4_Missense_Mutation_p.R77W|CKLF-CMTM1_ENST00000527729.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CCTTATTTACCGGAAGCTTCT	0.428000													61	118					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913908	77913908	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:77913908C>G	ENST00000321110.1	-	2	305	c.10G>C	c.(10-12)Gac>Cac	p.D4H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	4							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGCTAAGTCCTCCACCATC	0.463000													16	17					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725738	140725738	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140725738C>T	ENST00000253812.6	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGCTGGCGCTCAGGCTG	0.682000													23	140					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432101	10432101	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10432101T>A	ENST00000245503.5	-	27	4034	c.3650A>T	c.(3649-3651)cAg>cTg	p.Q1217L	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1217L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1217					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCACTCGCTGCAGGTTGTC	0.527000													55	114					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145581347	145581347	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:145581347C>A	ENST00000331890.5	-	2	580	c.516G>T	c.(514-516)aaG>aaT	p.K172N	FBXL6_ENST00000455319.2_Missense_Mutation_p.K172N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	172					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGACCCCGCCCTTGGCAGGCC	0.692000													4	21					0.00909568	0.00927881	1	1	0
ATF3	467	broad.mit.edu	37	1	212788549	212788549	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:212788549G>T	ENST00000341491.4	+	2	451	c.186G>T	c.(184-186)ctG>ctT	p.L62L	ATF3_ENST00000366983.1_Silent_p.L62L|ATF3_ENST00000366985.1_Silent_p.L5L|ATF3_ENST00000336937.4_Silent_p.L33L|ATF3_ENST00000366987.2_Silent_p.L62L|ATF3_ENST00000492118.1_Intron	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	62						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		CCTCTGCGCTGGAATCAGTCA	0.527000													14	98					0.0285812	0.0289623	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11338713	11338713	+	Splice_Site	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:11338713T>A	ENST00000315872.6	-	25	3453		c.e25-2		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGACAGTTCTGAAACATGGA	0.303000													30	103					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592669	81592669	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592669C>A	ENST00000394660.2	+	14	3362	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	IL16_ENST00000394652.2_Missense_Mutation_p.S300Y|IL16_ENST00000302987.4_Missense_Mutation_p.S1001Y	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1001					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCATGAAATCCTTGCTGTGC	0.522000													34	74					6.90743e-12	7.83529e-12	1	1	0
ADM	133	broad.mit.edu	37	11	10327307	10327307	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:10327307C>T	ENST00000528655.1	+	1	677	c.60C>T	c.(58-60)gaC>gaT	p.D20D	ADM_ENST00000525063.1_Silent_p.D20D|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000526492.1_Silent_p.D20D|ADM_ENST00000524948.1_Silent_p.D20D|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000278175.5_Silent_p.D20D|ADM_ENST00000528544.1_Silent_p.D20D			P35318	ADML_HUMAN	adrenomedullin	20					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TAGGCGCTGACACCGCTCGGT	0.607000													17	35					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42280846	42280846	+	Splice_Site	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:42280846G>T	ENST00000361204.4	+	11	2205	c.2038_splice	c.e11-1	p.G680_splice		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	680					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCACCCTAGGGAAGCTTCCT	0.532000													21	56					1.10513e-12	1.26301e-12	1	1	0
TMEM200C	645369	broad.mit.edu	37	18	5891615	5891615	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:5891615C>G	ENST00000581347.1	-	3	1093	c.448G>C	c.(448-450)Ggc>Cgc	p.G150R	TMEM200C_ENST00000383490.2_Missense_Mutation_p.G150R|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	150						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AAGAAGAAGCCCACGGACGTG	0.647000													12	73					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866481	56866481	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:56866481C>A	ENST00000520220.2	+	8	939	c.665C>A	c.(664-666)cCc>cAc	p.P222H	LYN_ENST00000519728.1_Missense_Mutation_p.P243H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	243	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGGAGATCCCCCGGGAGTCC	0.522000													47	62					2.56175e-15	2.99527e-15	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177249808	177249808	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:177249808T>A	ENST00000361539.4	+	8	1808	c.1496T>A	c.(1495-1497)cTg>cAg	p.L499Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		499						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCGAGTCCCTGGAAAACTTT	0.587000													39	38					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78177463	78177463	+	Missense_Mutation	SNP	C	C	T	rs1058816		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:78177463C>T	ENST00000370793.1	-	22	2814	c.2468G>A	c.(2467-2469)aGa>aAa	p.R823K	USP33_ENST00000370794.3_Missense_Mutation_p.R792K|USP33_ENST00000370792.3_Missense_Mutation_p.R815K|USP33_ENST00000357428.1_Missense_Mutation_p.R823K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	823	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGTTTTTCTTCTTTTTTCAAT	0.328000													43	100					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75930353	75930353	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:75930353C>A	ENST00000377636.3	-	4	1551	c.1205G>T	c.(1204-1206)tGc>tTc	p.C402F	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.C402F|TBC1D4_ENST00000377625.2_Missense_Mutation_p.C402F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	402	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGACTCCCGGCAGATAAAGCC	0.418000													18	43					8.34094e-07	8.91263e-07	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50724790	50724790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:50724790C>A	ENST00000404971.1	-	15	4019	c.2680G>T	c.(2680-2682)Gaa>Taa	p.E894*	NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E846*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E854*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E854*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	854					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACCGTCGTTCTGTGATGATG	0.403000													19	74					4.96729e-08	5.4221e-08	1	1	0
A2M	2	broad.mit.edu	37	12	9229400	9229400	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:9229400T>A	ENST00000318602.7	-	28	3791	c.3484A>T	c.(3484-3486)Aag>Tag	p.K1162*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1162					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCTTCCTCTTGTCCTGGTTA	0.507000													24	62					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55734117	55734117	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:55734117T>A	ENST00000379906.2	+	12	1912	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	SLC6A2_ENST00000219833.8_Missense_Mutation_p.W553R|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W448R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W508R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W553R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W553R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	553					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTCCCGCCCTGGGCCAACTG	0.562000													32	110					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255264	70255264	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:70255264C>T	ENST00000342771.4	+	19	3383	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1021										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGGCCTCGATGCCCATG	0.682000													9	24					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102818643	102818643	+	Silent	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102818643C>G	ENST00000260302.3	-	8	1216	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	MMP13_ENST00000340273.4_Silent_p.L396L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	396	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTCCTGAGAACAGGAGAGTCT	0.438000													32	97					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363739	20363739	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:20363739C>T	ENST00000423676.3	-	2	120	c.57G>A	c.(55-57)ggG>ggA	p.G19G	LGALS9B_ENST00000324290.5_Silent_p.G19G			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	19	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTTGGATAGTCCCAGAAAAGG	0.587000													14	90					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477430	110477430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:110477430G>A	ENST00000378402.5	+	49	8473	c.8369G>A	c.(8368-8370)tGg>tAg	p.W2790*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2790					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTTTCGCTGGGAACATGAA	0.393000										HNSCC(38;0.096)			38	51					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53233635	53233635	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53233635C>A	ENST00000359499.4	-	7	862	c.851G>T	c.(850-852)tGc>tTc	p.C284F	KRT78_ENST00000304620.4_Missense_Mutation_p.C394F			Q8N1N4	K2C78_HUMAN	keratin 78	394	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGGTACTCGCACAGCAGCCG	0.642000													16	68					2.23348e-06	2.37405e-06	1	1	0
HORMAD1	84072	broad.mit.edu	37	1	150679212	150679212	+	Silent	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:150679212A>T	ENST00000368993.2	-	10	726	c.621T>A	c.(619-621)ccT>ccA	p.P207P	HORMAD1_ENST00000322343.7_Silent_p.P200P|HORMAD1_ENST00000361824.2_Silent_p.P207P|HORMAD1_ENST00000368995.4_Silent_p.P127P			Q86X24	HORM1_HUMAN	HORMA domain containing 1	207	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTAAATACATAGGTTCCCCTT	0.393000													96	91					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701090	52701090	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:52701090A>G	ENST00000370989.1	-	4	374	c.216T>C	c.(214-216)ctT>ctC	p.L72L	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Silent_p.L72L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAATGTAGTTAAGAATGGCTC	0.423000													72	234					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979183	50979183	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:50979183G>T	ENST00000600100.1	-	2	631	c.267C>A	c.(265-267)ccC>ccA	p.P89P	FAM71E1_ENST00000595790.1_Silent_p.P89P			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	89										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GACGGCCCGTGGGAGAGGCTG	0.617000													3	18					0.004672	0.00478211	1	1	0
MKI67	4288	broad.mit.edu	37	10	129902617	129902617	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:129902617A>C	ENST00000368654.3	-	13	7862	c.7487T>G	c.(7486-7488)cTa>cGa	p.L2496R	MKI67_ENST00000368653.3_Missense_Mutation_p.L2136R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2496	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGACTGCTAGGGGCTCTTC	0.488000													56	270					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642350	11642350	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:11642350T>C	ENST00000262442.3	+	29	6036	c.5968T>C	c.(5968-5970)Ttc>Ctc	p.F1990L	DNAH9_ENST00000454412.2_Missense_Mutation_p.F1990L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1990	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTCTCTCTTCAGGTGAGT	0.443000													13	39					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38658926	38658926	+	RNA	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:38658926A>G	ENST00000494540.1	+	0	770					NR_003086.1																						ATATAATGGAACAGAAGCTCT	0.323000													17	63					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179089369	179089369	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:179089369G>T	ENST00000502732.1	-	6	1204	c.1001C>A	c.(1000-1002)gCa>gAa	p.A334E	ABL2_ENST00000344730.3_Missense_Mutation_p.A319E|ABL2_ENST00000392043.3_Missense_Mutation_p.A313E|ABL2_ENST00000408940.3_Missense_Mutation_p.A298E|ABL2_ENST00000507173.1_Missense_Mutation_p.A313E|ABL2_ENST00000512653.1_Missense_Mutation_p.A319E|ABL2_ENST00000511413.1_Missense_Mutation_p.A334E|ABL2_ENST00000504405.1_Missense_Mutation_p.A298E|ABL2_ENST00000367623.4_Missense_Mutation_p.A313E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	334	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCATTACTGCAGCTTCTTT	0.403000			T	ETV6	AML								35	192					1.69901e-12	1.93808e-12	1	1	0
RAI14	26064	broad.mit.edu	37	5	34823347	34823347	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:34823347T>C	ENST00000265109.3	+	15	1687	c.1400T>C	c.(1399-1401)gTa>gCa	p.V467A	RAI14_ENST00000428746.2_Missense_Mutation_p.V467A|RAI14_ENST00000512629.1_Missense_Mutation_p.V438A|RAI14_ENST00000506376.1_Missense_Mutation_p.V459A|RAI14_ENST00000397449.1_Missense_Mutation_p.V460A|RAI14_ENST00000503673.1_Missense_Mutation_p.V467A|RAI14_ENST00000515799.1_Missense_Mutation_p.V470A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	467						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAGAACTGGTATGCTTAAAC	0.438000													62	71					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103271366	103271366	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:103271366G>A	ENST00000374879.4	+	3	818	c.386G>A	c.(385-387)tGt>tAt	p.C129Y	TMEFF1_ENST00000334943.6_Missense_Mutation_p.C90Y|MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.L92L	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AGGGCTGCTTGTAAGCACCAG	0.358000													19	82					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030801	10030801	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:10030801G>T	ENST00000378380.3	+	6	1913	c.1584G>T	c.(1582-1584)ccG>ccT	p.P528P	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.P528P	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		ACAAAACTCCGCTAATGACGG	0.428000													40	81					2.45108e-15	2.8714e-15	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24373118	24373118	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:24373118C>T	ENST00000005284.3	+	4	2084	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	294					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCACAATTCCACACCCAAAG	0.567000													16	81					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512826	161512826	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161512826C>G	ENST00000367969.3	-	5	1032	c.849G>C	c.(847-849)tgG>tgC	p.W283C	FCGR3A_ENST00000540048.1_Missense_Mutation_p.W247C|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W282C|FCGR3A_ENST00000436743.1_Missense_Mutation_p.W247C	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	247					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGTCCTTTCTCCATTTAAATT	0.438000													18	292					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592332	81592332	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:81592332C>A	ENST00000394660.2	+	14	3025	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	IL16_ENST00000394652.2_Silent_p.R188R|IL16_ENST00000302987.4_Silent_p.R889R|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	889			R -> Q (in dbSNP:rs17875512).		immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACTCTTGGGGCGAGGGGCTGC	0.622000													26	67					3.28513e-13	3.7686e-13	1	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524386	73524386	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:73524386C>T	ENST00000339534.2	+	1	362	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	95							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						ATACCTGCGGCAGACTAGGAC	0.512000													17	47					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779395	135779395	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:135779395G>C	ENST00000375845.3	-	2	58	c.28C>G	c.(28-30)Cat>Gat	p.H10D	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H27D|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H10D|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H10D	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GACTCAGCATGTCTTTCTATC	0.328000													25	64					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382522	33382522	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:33382522T>C	ENST00000374516.3	+	11	1236	c.965T>C	c.(964-966)aTt>aCt	p.I322T	PHF1_ENST00000374512.3_Missense_Mutation_p.I322T	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	322					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGGAGAGAGATTAAGAAGAGG	0.502000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	179					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631073	126631073	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:126631073G>C	ENST00000359653.4	+	1	382	c.11G>C	c.(10-12)cGt>cCt	p.R4P	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	4					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		ATGTCAGAACGTGGAATTAAG	0.388000													24	72					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854659	18854659	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:18854659C>T	ENST00000447925.2	-	8	1179	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E169K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E113K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E47K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E111K|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E306K	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	306					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCATGGGTTTCCTTTAAGGTT	0.378000													14	53					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911997	158911997	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158911997T>C	ENST00000368140.1	+	5	1055	c.810T>C	c.(808-810)atT>atC	p.I270I	PYHIN1_ENST00000368138.3_Silent_p.I261I|PYHIN1_ENST00000392254.2_Silent_p.I270I|PYHIN1_ENST00000392252.3_Silent_p.I261I|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	270	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAATCATCATTATATCAAATT	0.378000													30	103					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222682	140222682	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140222682G>A	ENST00000531613.1	+	1	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A592A	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGTAGCGAAGGTGCGCG	0.697000													50	45					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124268127	124268127	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124268127T>A	ENST00000395571.3	-	3	677	c.60A>T	c.(58-60)ccA>ccT	p.P20P	ZHX1_ENST00000297857.2_Silent_p.P20P|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000522655.1_Silent_p.P20P|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	20					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCAAGGTCTGGATCTTGTT	0.438000													53	209					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240681	155240681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:155240681G>A	ENST00000368361.4	-	2	403	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CLK2_ENST00000361168.5_Nonsense_Mutation_p.R30*|CLK2_ENST00000355560.4_Nonsense_Mutation_p.R30*|CLK2_ENST00000536801.1_Nonsense_Mutation_p.R30*			P49760	CLK2_HUMAN	CDC-like kinase 2	30						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGACTTCTTCGTCGCTTATGC	0.592000								Other conserved DNA damage response genes					8	113					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39775664	39775664	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:39775664C>G	ENST00000518237.1	+	3	880	c.241C>G	c.(241-243)Cta>Gta	p.L81V	RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.L81V	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	81					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CCTTGCACGTCTAGTTCTGGG	0.428000													17	153					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629428	109629428	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109629428G>T	ENST00000338432.7	+	14	2274	c.2155G>T	c.(2155-2157)Gtg>Ttg	p.V719L	ACACB_ENST00000377854.5_Missense_Mutation_p.V719L|ACACB_ENST00000377848.3_Missense_Mutation_p.V719L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	719	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAACATGGTGGTGGCTTTGAA	0.463000													23	69					4.59853e-10	5.09272e-10	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103027225	103027225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:103027225C>T	ENST00000375735.2	+	26	3997	c.3853C>T	c.(3853-3855)Caa>Taa	p.Q1285*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q1285*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1285	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAGACAGCCAAAGTCGAAC	0.378000													21	112					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724915	158724915	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:158724915A>C	ENST00000368144.2	+	1	406	c.310A>C	c.(310-312)Acc>Ccc	p.T104P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTATACCACAACCACCATCCC	0.493000													24	139					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103012989	103012989	+	Splice_Site	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:103012989A>T	ENST00000409599.1	+	12	1626		c.e12-1		IL18R1_ENST00000233957.1_Splice_Site			Q13478	IL18R_HUMAN	interleukin 18 receptor 1						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGCATTTTCAGCTGTTGTTG	0.338000													29	32					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921127	77921127	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:77921127G>A	ENST00000529308.1	+	10	2487	c.2226G>A	c.(2224-2226)ccG>ccA	p.P742P	USP35_ENST00000530267.1_Silent_p.P310P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.P473P|USP35_ENST00000441408.2_Silent_p.P328P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	742					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGACCCACCCGGATGCTGCCA	0.607000													14	96					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20846391	20846391	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:20846391G>A	ENST00000274695.4	+	9	891	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	CDKAL1_ENST00000378624.4_Missense_Mutation_p.A172T|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A242T	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	242					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGTAGATAGAGCCAAACAATC	0.328000													10	62					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2228994	2228994	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:2228994G>A	ENST00000343516.6	-	19	4200	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1370					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGTTTCTGCCGGGCGCTGTCC	0.806000													3	2					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77530290	77530290	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:77530290G>C	ENST00000461745.1	+	4	1487	c.587G>C	c.(586-588)aGt>aCt	p.S196T	ROBO2_ENST00000487694.3_Missense_Mutation_p.S212T|ROBO2_ENST00000332191.8_Missense_Mutation_p.S196T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	196	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCAGGAAAAGTGATGCAGGG	0.383000													40	89					0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133266890	133266890	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:133266890T>A	ENST00000317479.3	+	2	229	c.164T>A	c.(163-165)aTt>aAt	p.I55N	PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000545677.1_5'UTR|PXMP2_ENST00000543589.1_Missense_Mutation_p.I55N	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	55						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCCAGATGATTGAGAAGAAG	0.517000													4	121					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42866334	42866334	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:42866334G>C	ENST00000398585.3	-	3	358	c.298C>G	c.(298-300)Ccc>Gcc	p.P100A	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P63A|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P63A|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	63					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CAGACGACGGGGTTGGAAGCC	0.612000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								14	40					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166601	161166601	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:161166601C>T	ENST00000367996.4	-	2	1131	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G235S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	235	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCGCACCGTGGAATGCG	0.547000													5	404					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864177	31864177	+	Silent	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:31864177G>C	ENST00000334063.4	-	1	98	c.99C>G	c.(97-99)cgC>cgG	p.R33R		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AACCCAGTCTGCGGAAGCTGC	0.582000													92	224					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318495	10318495	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:10318495C>T	ENST00000403437.2	-	9	837	c.741_splice	c.e9-1	p.G248_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	248	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATGAATTTACCCTTGAAAAG	0.363000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				35	135					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66115122	66115122	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:66115122C>A	ENST00000503581.1	-	6	1538	c.1001G>T	c.(1000-1002)aGt>aTt	p.S334I	EYS_ENST00000342421.5_Missense_Mutation_p.S334I|EYS_ENST00000370621.3_Missense_Mutation_p.S334I|EYS_ENST00000370618.3_Missense_Mutation_p.S334I|EYS_ENST00000370616.2_Missense_Mutation_p.S334I|EYS_ENST00000393380.2_Missense_Mutation_p.S334I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	334	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGAAAACTCACTGACATCAGT	0.343000													38	135					5.43694e-19	6.58497e-19	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53876790	53876790	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:53876790C>T	ENST00000267079.2	-	12	1923	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	MAP3K12_ENST00000547488.1_Silent_p.V599V|MAP3K12_ENST00000547035.1_Silent_p.V599V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	566					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CATGGGGTGGCACAGCTGTAC	0.701000													13	26					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427779	97427779	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:97427779C>T	ENST00000377075.2	+	1	1141	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	348	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTGAAGGTGACGGAGCCCTAT	0.507000													72	232					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003933	93003933	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:93003933G>T	ENST00000523629.1	-	7	1379	c.925C>A	c.(925-927)Cac>Aac	p.H309N	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H309N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H272N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H320N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H282N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H272N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	309					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H272N(1)|p.H320N(1)|p.H309N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGTAGTGGTGGGCAATGGCC	0.542000													36	118					4.65686e-17	5.51925e-17	1	1	0
LIPE	3991	broad.mit.edu	37	19	42914537	42914537	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42914537C>T	ENST00000244289.4	-	2	1617	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	447					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CGGTGAGCCCCTCGTCGCCCT	0.662000													23	13					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373344	87373344	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:87373344G>T	ENST00000327946.7	-	15	2506	c.2421C>A	c.(2419-2421)caC>caA	p.H807Q	GRID1_ENST00000536331.1_Missense_Mutation_p.H378Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	807						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCGGCCCATGTGCGGCCACC	0.607000										Multiple Myeloma(13;0.14)			29	72					2.85442e-18	3.42305e-18	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149558815	149558815	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:149558815G>C	ENST00000223210.4	+	7	2811	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCTCTGTCCGAGGTGTGCCA	0.607000													15	19					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361678	47361678	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:47361678A>T	ENST00000396220.1	-	3	320	c.298T>A	c.(298-300)Ttc>Atc	p.F100I	PREX1_ENST00000371941.3_Missense_Mutation_p.F100I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	100	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTTCGAGAACAGGACCTGT	0.507000													58	258					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070773	19070773	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:19070773C>G	ENST00000421369.3	+	15	2291	c.1733C>G	c.(1732-1734)gCa>gGa	p.A578G	TMC7_ENST00000569532.1_Missense_Mutation_p.A688G|TMC7_ENST00000304381.5_Missense_Mutation_p.A688G	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	688						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTAGCTGGAGCACACAAACGG	0.502000													22	114					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13935563	13935563	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:13935563A>G	ENST00000343495.5	-	13	2046	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	ETV1_ENST00000405358.4_Silent_p.D468D|ETV1_ENST00000430479.1_Silent_p.D454D|ETV1_ENST00000399357.3_Silent_p.D351D|ETV1_ENST00000420159.2_Silent_p.D396D|ETV1_ENST00000242066.5_Silent_p.D436D|ETV1_ENST00000403527.1_Silent_p.D414D|ETV1_ENST00000405192.2_Silent_p.D431D|ETV1_ENST00000403685.1_Silent_p.D436D|ETV1_ENST00000405218.2_Silent_p.D454D			P50549	ETV1_HUMAN	ets variant 1	454					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCATGCTCTCATCAAAGTGAG	0.517000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								9	32					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601255	123601255	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:123601255G>A	ENST00000336139.4	-	3	704	c.342C>T	c.(340-342)ggC>ggT	p.G114G	ZNF202_ENST00000530393.1_Silent_p.G114G|ZNF202_ENST00000529691.1_Silent_p.G114G			O95125	ZN202_HUMAN	zinc finger protein 202	114	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGCCTCCTCGCCACTTTCTG	0.587000													30	145					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105664941	105664941	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:105664941G>A	ENST00000542731.1	+	15	2299	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	CDHR3_ENST00000478080.1_Missense_Mutation_p.V643I|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.V731I|CDHR3_ENST00000343407.5_Missense_Mutation_p.G233D			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	731					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CGTGTACCTGGTCGTCCTATT	0.537000													4	49					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392959	65392959	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:65392959C>T	ENST00000355703.3	+	18	3652	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1038						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACCCCTTGCCGGACAAGATG	0.687000													12	78					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	11999164	11999164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:11999164C>T	ENST00000269159.3	+	2	450	c.208C>T	c.(208-210)Cga>Tga	p.R70*	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	70					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTCTGAGTTGCGAGAGAGGTT	0.483000													24	154					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22658660	22658660	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:22658660C>A	ENST00000400546.1	+	4	658	c.409C>A	c.(409-411)Cga>Aga	p.R137R	NCAM2_ENST00000535285.1_Silent_p.R162R|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	137	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTGGTTTGCCGAGTTAGCAG	0.398000													28	59					3.65163e-15	4.2614e-15	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140793389	140793389	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140793389T>C	ENST00000398610.2	+	1	647	c.647T>C	c.(646-648)cTc>cCc	p.L216P	PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGTCCTCACCGCCTCC	0.592000													3	42					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27067904	27067904	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:27067904G>A	ENST00000268766.6	+	12	1667	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	545						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCAGCAAGTGGAGGAGGCCCT	0.612000													14	51					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156940468	156940468	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:156940468T>C	ENST00000257527.4	-	8	790	c.712A>G	c.(712-714)Ata>Gta	p.I238V	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.I240V|ADAM19_ENST00000517905.1_Missense_Mutation_p.I238V	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	238	Peptidase M12B.				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)			GCGATCTCTATGAGCTTGTGT	0.512000													32	96					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124672315	124672315	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:124672315C>G	ENST00000368894.1	+	3	284	c.163C>G	c.(163-165)Cac>Gac	p.H55D		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	55						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGTAAAAAATCACAACCCAGA	0.463000													30	88					0	0	1	0	0
ATPIF1	93974	broad.mit.edu	37	1	28564448	28564448	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:28564448C>T	ENST00000335514.5	+	3	331	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR|ATPIF1_ENST00000468425.2_Intron	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	94					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAATTGAGCGCCATAAGCA	0.418000													4	120					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6525468	6525468	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:6525468C>T	ENST00000263125.5	-	11	1212	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	PRKCQ_ENST00000539722.1_Silent_p.L246L|PRKCQ_ENST00000397176.2_Silent_p.L371L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	371					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTTTAATCTGCAGAGATGGTC	0.433000													40	140					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173996853	173996853	+	Silent	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:173996853A>T	ENST00000457714.1	+	6	1491	c.1062A>T	c.(1060-1062)atA>atT	p.I354I	NLGN1_ENST00000545397.1_Silent_p.I354I|NLGN1_ENST00000401917.3_Silent_p.I394I|NLGN1_ENST00000361589.4_Silent_p.I354I|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	371					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATACCACATAGCCTTTGGAC	0.413000													86	196					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945240	55945240	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:55945240C>A	ENST00000394256.2	+	1	258	c.230C>A	c.(229-231)cCc>cAc	p.P77H	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ATTTTTATTCCCAGATTTCTG	0.418000													56	123					3.50607e-19	4.26338e-19	1	1	0
PRDM8	56978	broad.mit.edu	37	4	81123492	81123492	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:81123492C>A	ENST00000339711.4	+	10	2107	c.876C>A	c.(874-876)ggC>ggA	p.G292G	PRDM8_ENST00000504452.1_Silent_p.G292G|PRDM8_ENST00000415738.2_Silent_p.G292G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	292	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggcggcCACC	0.716000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0.014758	0.0150299	1	1	0
RRH	10692	broad.mit.edu	37	4	110763787	110763787	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:110763787G>A	ENST00000317735.4	+	6	917	c.883G>A	c.(883-885)Gtg>Atg	p.V295M		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	295					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATTTATGTGGTTGCTAA	0.373000													18	117					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615580	140615580	+	RNA	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140615580A>T	ENST00000526308.1	+	0	1643					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACCAACGCCCAGGTCACCTAC	0.647000													92	130					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45750141	45750141	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:45750141C>T	ENST00000297323.7	+	19	2969	c.2947C>T	c.(2947-2949)Cct>Tct	p.P983S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAATGTTGGCCCTGTGGTGGC	0.582000													20	69					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42462927	42462927	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:42462927T>C	ENST00000222008.6	-	2	327	c.230A>G	c.(229-231)aAc>aGc	p.N77S	RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.N77S	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	77						cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						GAACACATAGTTGCTCTGGTA	0.657000													12	10					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55970166	55970166	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:55970166T>C	ENST00000389286.4	-	8	1257	c.1210A>G	c.(1210-1212)Att>Gtt	p.I404V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	404	Ig-like 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CTAGATAAAATAGATCCTTGG	0.373000													28	66					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32305701	32305701	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:32305701A>T	ENST00000357033.4	-	43	6441	c.6235T>A	c.(6235-6237)Tcc>Acc	p.S2079T	DMD_ENST00000378677.2_Missense_Mutation_p.S2075T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2079					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAGCTGGGAGAGAGCTTCC	0.413000													23	51					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21141477	21141477	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:21141477A>T	ENST00000377122.4	-	10	1401	c.1005T>A	c.(1003-1005)agT>agA	p.S335R	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	335					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTACCTGACTTTGGAGGA	0.498000													87	64					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104027165	104027165	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:104027165A>G	ENST00000445922.2	-	2	583	c.337T>C	c.(337-339)Tat>Cat	p.Y113H	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.Y113H|BAG5_ENST00000337322.4_Missense_Mutation_p.Y154H	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	113	BAG 2.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CCTCCATTATAAAATGGCACA	0.433000													5	166					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170846571	170846571	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:170846571C>G	ENST00000436636.2	-	16	2049	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	TNIK_ENST00000284483.8_Missense_Mutation_p.E569Q|TNIK_ENST00000369326.5_Missense_Mutation_p.E540Q|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.E540Q|TNIK_ENST00000357327.5_Missense_Mutation_p.E540Q|TNIK_ENST00000460047.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	569	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAAGGACTCCGACCTTGGG	0.567000													11	31					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66834519	66834519	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:66834519C>T	ENST00000423207.2	+	14	2152	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	PDE4B_ENST00000371049.3_Missense_Mutation_p.S571F|PDE4B_ENST00000329654.4_Missense_Mutation_p.S571F|PDE4B_ENST00000480109.2_Missense_Mutation_p.S338F|PDE4B_ENST00000371045.5_Missense_Mutation_p.S399F	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	571					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCCACCAAGTCCTTGGAATTG	0.463000													24	100					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079045	122079045	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:122079045C>T	ENST00000330079.7	+	2	601	c.408C>T	c.(406-408)caC>caT	p.H136H		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	134					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TGGCTGTGCACCTGTTTGCGC	0.612000													9	40					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63983025	63983025	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:63983025C>G	ENST00000373789.3	-	7	849	c.753G>C	c.(751-753)aaG>aaC	p.K251N	RTKN2_ENST00000395265.1_Missense_Mutation_p.K251N|RTKN2_ENST00000315289.2_Missense_Mutation_p.K32N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	251					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GATTATGGGTCTTGAAACTAT	0.303000													39	167					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060212	35060212	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr20:35060212C>T	ENST00000373913.3	+	3	572	c.92C>T	c.(91-93)cCc>cTc	p.P31L	DLGAP4_ENST00000401952.2_Missense_Mutation_p.P31L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P31L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P31L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	31					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GACCGCAACCCCTACCTGCTG	0.687000													15	62					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15694237	15694237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:15694237C>A	ENST00000281513.5	-	4	260	c.235G>T	c.(235-237)Gga>Tga	p.G79*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.G79*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	79										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGAACCAGTCCATCAGGGAGC	0.368000													12	37					0.00136819	0.00140755	1	1	0
TMEM88	92162	broad.mit.edu	37	17	7758805	7758805	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7758805G>A	ENST00000301599.6	+	2	263	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	85						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GCACCTGCGGGACCCCGGTTT	0.692000													17	41					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113707570	113707570	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:113707570G>A	ENST00000550785.1	+	8	1053	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	TPCN1_ENST00000335509.6_Missense_Mutation_p.R223Q|TPCN1_ENST00000541517.1_Missense_Mutation_p.R295Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R155Q	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	223						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAACCTGCGGCAGATCTTC	0.612000													17	107					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194841	154194841	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:154194841G>A	ENST00000360256.4	-	8	1331	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	377					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATCAAACCTGACCACATCCA	0.418000													32	72					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	73004459	73004459	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:73004459A>T	ENST00000389617.4	+	4	972	c.811A>T	c.(811-813)Atg>Ttg	p.M271L		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	271					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TTCAGGAGTCATGTTAATGAA	0.453000													8	46					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096987	51096987	+	Silent	SNP	G	G	T	rs149617160		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:51096987G>T	ENST00000395542.2	-	12	2236	c.2052C>A	c.(2050-2052)ccC>ccA	p.P684P	COBL_ENST00000265136.7_Silent_p.P602P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	602										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATGGGAAGCGGGGTGCAGGG	0.557000													26	68					7.92952e-12	8.96124e-12	1	1	0
C7orf62	219557	broad.mit.edu	37	7	88423892	88423892	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423892G>T	ENST00000297203.2	-	2	550	c.365C>A	c.(364-366)aCa>aAa	p.T122K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	122										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAAAAATACTGTTTCATCTTT	0.353000													13	53					3.99206e-14	4.60564e-14	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196636512	196636512	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:196636512C>T	ENST00000312428.6	-	61	11405	c.11305G>A	c.(11305-11307)Gcc>Acc	p.A3769T	DNAH7_ENST00000409063.1_Missense_Mutation_p.A252T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3769					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCTCATGGCAGCCTCGATG	0.453000													57	229					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511143	15511143	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:15511143C>A	ENST00000397410.4	-	8	1075	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	AC006128.2_ENST00000599183.1_RNA|AKAP8L_ENST00000595465.1_Missense_Mutation_p.E276D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	337						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCTCCCATCCTCTTTTCCCT	0.463000													15	77					1.99824e-07	2.16179e-07	1	1	0
IL17RA	23765	broad.mit.edu	37	22	17579699	17579699	+	Silent	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr22:17579699T>A	ENST00000319363.6	+	4	478	c.345T>A	c.(343-345)tcT>tcA	p.S115S	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	115					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGAGTTATCTGTCCTGCAGC	0.522000													14	67					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95887076	95887076	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:95887076C>T	ENST00000376887.4	-	4	433	c.319G>A	c.(319-321)Gta>Ata	p.V107I	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.V107I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V107I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	107	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGCTGGATTACTTTGGCACTT	0.338000													3	10					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71863852	71863852	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:71863852C>T	ENST00000286648.5	+	2	557	c.160C>T	c.(160-162)Cct>Tct	p.P54S	DCK_ENST00000504952.1_Missense_Mutation_p.P54S|DCK_ENST00000504730.1_Missense_Mutation_p.P54S|MOB1B_ENST00000511449.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	54					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GGTTCCTGAACCTGTTGCCAG	0.368000													19	104					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15823836	15823836	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:15823836C>A	ENST00000281172.5	-	4	594	c.158G>T	c.(157-159)cGg>cTg	p.R53L	EPS8_ENST00000543523.1_Missense_Mutation_p.R53L|EPS8_ENST00000543612.1_Missense_Mutation_p.R53L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	53					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GACACTGTCCCGTGCATAATT	0.383000													6	96					0.0381472	0.0385915	1	1	0
OPRD1	4985	broad.mit.edu	37	1	29189480	29189480	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:29189480C>T	ENST00000234961.2	+	3	1046	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	268					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.G268G(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TGGTTGTGGGCGCCTTCGTGG	0.677000													5	33					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535067	88535067	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:88535067G>A	ENST00000399271.1	+	5	1373	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G418E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	418					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGACACAAGGAGAGGTTGTC	0.413000													15	77					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138652771	138652771	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:138652771A>G	ENST00000394800.2	+	10	1708	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G	MATR3_ENST00000502929.1_Missense_Mutation_p.R387G|MATR3_ENST00000394805.3_Missense_Mutation_p.R387G|MATR3_ENST00000502499.1_Missense_Mutation_p.R49G|MATR3_ENST00000504203.1_Missense_Mutation_p.R49G|MATR3_ENST00000503811.1_Missense_Mutation_p.R99G|MATR3_ENST00000510056.1_Missense_Mutation_p.R387G|MATR3_ENST00000361059.2_Missense_Mutation_p.R387G|MATR3_ENST00000509990.1_Missense_Mutation_p.R387G			P43243	MATR3_HUMAN	matrin 3	387						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAAGGACCTAGACACATGCA	0.353000													20	24					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038683	94038683	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:94038683C>G	ENST00000297268.6	+	17	1313	c.842C>G	c.(841-843)cCc>cGc	p.P281R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	281					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCGCCGGTCCCCGTGGTGAA	0.483000										HNSCC(75;0.22)			44	72					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466094	24466094	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:24466094T>C	ENST00000382137.3	-	3	404	c.336A>G	c.(334-336)aaA>aaG	p.K112K	C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.K112K|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	112	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CTCGGAGGCCTTTCTCTCCCA	0.582000													3	54					0	0	1	0	0
DSCR3	10311	broad.mit.edu	37	21	38605665	38605665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:38605665C>T	ENST00000288304.5	-	4	1096	c.304G>A	c.(304-306)Gct>Act	p.A102T	DSCR3_ENST00000309117.6_Missense_Mutation_p.A144T|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000399000.3_5'UTR|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.A96T|DSCR3_ENST00000476950.1_Intron			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	144					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						AAGCTTACAGCGGAGTGAACG	0.473000													8	96					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29440442	29440442	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:29440442A>G	ENST00000222792.6	+	6	1104	c.574A>G	c.(574-576)Aag>Gag	p.K192E	CHN2_ENST00000539406.1_Missense_Mutation_p.K267E|CHN2_ENST00000495789.2_Missense_Mutation_p.K205E|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.K177E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGCGGTGGAAAAGGTGAGCTG	0.458000													18	41					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36083381	36083381	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:36083381T>C	ENST00000377966.3	+	8	1025	c.459T>C	c.(457-459)agT>agC	p.S153S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	153	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTGTTGCAGTTATGCAGGTC	0.388000													55	413					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31747309	31747309	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31747309G>A	ENST00000375663.3	-	28	3733	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1098					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GTCCTTCCAGGAGCACTGTGG	0.687000													7	29					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102650092	102650092	+	Splice_Site	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:102650092C>A	ENST00000279441.4	-	3	384	c.347_splice	c.e3-1	p.R116_splice		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	116					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AATTCACAATCCTGGAGGAGA	0.368000													102	118					8.78727e-49	1.13916e-48	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3788618	3788618	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:3788618G>A	ENST00000262367.5	-	26	5145	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446C(6)|p.R1446G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGGCTGTGCGGAGGCAACGT	0.413000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	41					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180165	139180165	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:139180165C>A	ENST00000395297.1	-	12	1401	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	411										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGTATCTGTCCTCAAAGATC	0.532000										HNSCC(54;0.14)			31	158					8.16721e-17	9.66082e-17	1	1	0
PLA2G7	7941	broad.mit.edu	37	6	46672926	46672926	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:46672926T>A	ENST00000274793.7	-	11	1349	c.1153A>T	c.(1153-1155)Aac>Tac	p.N385Y	PLA2G7_ENST00000537365.1_Missense_Mutation_p.N385Y	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	385					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GAAGCTTTGTTGCTAAGATCA	0.338000													20	77					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:86800203G>T	ENST00000441037.2	+	7	812	c.717G>T	c.(715-717)ccG>ccT	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507000													16	41					3.45872e-05	3.64454e-05	1	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440332	104440332	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:104440332C>A	ENST00000372582.1	+	3	1014	c.258C>A	c.(256-258)ccC>ccA	p.P86P	IL1RAPL2_ENST00000344799.4_Silent_p.P86P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	86	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAAGAGCCCATCATCTTTT	0.443000													35	42					6.90743e-12	7.83529e-12	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92733305	92733305	+	Silent	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:92733305A>G	ENST00000379958.2	-	3	2375	c.2106T>C	c.(2104-2106)tcT>tcC	p.S702S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	702						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAAAAGGTGAAGAATAACTTT	0.343000													55	217					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325794	119325794	+	Nonsense_Mutation	SNP	G	G	T	rs141940849		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:119325794G>T	ENST00000273371.4	+	2	319	c.247G>T	c.(247-249)Gga>Tga	p.G83*	PLA1A_ENST00000494440.1_Nonsense_Mutation_p.G67*|PLA1A_ENST00000495992.1_Nonsense_Mutation_p.G83*|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	83					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCACTCTGGGAACCAAACT	0.428000													34	158					8.4185e-14	9.69403e-14	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167229	140167229	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:140167229G>T	ENST00000504120.2	+	1	1354	c.1354G>T	c.(1354-1356)Gcg>Tcg	p.A452S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A452S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A452S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCGCCTGCGTT	0.677000													55	59					8.28887e-21	1.02017e-20	1	1	0
KCNJ6	3763	broad.mit.edu	37	21	39086663	39086663	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr21:39086663G>A	ENST00000400482.3	-	3	1386	c.797C>T	c.(796-798)aCg>aTg	p.T266M	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCATCCCCCGTGTAATACCC	0.507000													60	101					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79128500	79128500	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:79128500G>C	ENST00000370747.4	+	8	1310	c.1225G>C	c.(1225-1227)Gct>Cct	p.A409P	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	409					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCTTTCTGCTCTGAGACG	0.453000													39	147					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124817558	124817558	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr8:124817558G>C	ENST00000334705.7	+	19	2107	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.D621H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	621										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTTCCATTTGATGAAACAGA	0.343000													14	54					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097546	160097546	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:160097546C>T	ENST00000361216.3	+	8	1042	c.953C>T	c.(952-954)gCa>gTa	p.A318V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A318V|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	318					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTGGAGGCAGTCATCTTC	0.592000													82	111					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158704263	158704263	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:158704263C>T	ENST00000407559.3	+	12	1641	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	495										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAACTGCTTCGGCTCATTGA	0.333000													24	65					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237395	29237395	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr14:29237395G>A	ENST00000382535.3	+	2	1279	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FOXG1_ENST00000313071.4_Missense_Mutation_p.G304S			P55316	FOXG1_HUMAN	forkhead box G1	304				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACCGCGCCGGCTCCCTCTA	0.701000													12	63					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135739064	135739064	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:135739064C>T	ENST00000375845.3	-	9	3277	c.3247G>A	c.(3247-3249)Gga>Aga	p.G1083R	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G215R|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.K1150K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G265R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G970R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATTAGCTGTCCTTGACTAGTG	0.363000													65	156					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61031985	61031985	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:61031985G>T	ENST00000335613.5	-	19	2590	c.2204C>A	c.(2203-2205)cCt>cAt	p.P735H	VWCE_ENST00000535710.1_Missense_Mutation_p.P200H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	735	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCAGTCCCCAGGAAGCAGGGC	0.582000													6	21					3.59834e-05	3.77856e-05	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95293066	95293066	+	Silent	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:95293066C>T	ENST00000271227.6	+	4	384	c.282C>T	c.(280-282)caC>caT	p.H94H	SLC44A3_ENST00000527077.1_Silent_p.H58H|SLC44A3_ENST00000532427.1_Silent_p.H46H|SLC44A3_ENST00000467909.1_Silent_p.H46H|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Silent_p.H58H|SLC44A3_ENST00000529450.1_Silent_p.H94H	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	94						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCCTAGACACGTGTTCTTTA	0.448000													10	81					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20807067	20807067	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20807067G>A	ENST00000359062.3	+	15	3152	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1038	Catalytic (By similarity).				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)	AGATACTGATGACCCAGAAGA	0.448000													26	52					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288724	62288724	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:62288724C>T	ENST00000378024.4	-	5	13439	c.13165G>A	c.(13165-13167)Gac>Aac	p.D4389N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4389					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)				AAGTCAATGTCAGGCATGGAG	0.468000													64	438					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423891	88423891	+	Silent	SNP	T	T	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:88423891T>C	ENST00000297203.2	-	2	551	c.366A>G	c.(364-366)acA>acG	p.T122T	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	122										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAAAAAATACTGTTTCATCTT	0.348000													13	54					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156775228	156775228	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:156775228C>T	ENST00000537611.2	-	3	632		c.e3+1			NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5							integral to membrane|plasma membrane											AAAATCGTTACCTTTGGGCTA	0.368000													14	78					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100815522	100815522	+	Silent	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:100815522G>A	ENST00000300303.2	-	4	1186	c.948C>T	c.(946-948)caC>caT	p.H316H	NAT16_ENST00000455377.1_Silent_p.H316H	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	316							N-acetyltransferase activity										GGCGCTGCAGGTGCCACAGCA	0.672000													10	30					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133063	91133063	+	Silent	SNP	C	C	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:91133063C>A	ENST00000373094.1	+	2	2669	c.1824C>A	c.(1822-1824)tcC>tcA	p.S608S	PCDH11X_ENST00000361655.2_Silent_p.S608S|PCDH11X_ENST00000298274.8_Silent_p.S608S|PCDH11X_ENST00000504220.1_Silent_p.S608S|PCDH11X_ENST00000361724.1_Silent_p.S608S|PCDH11X_ENST00000406881.1_Silent_p.S608S|PCDH11X_ENST00000395337.2_Silent_p.S608S|PCDH11X_ENST00000373097.1_Silent_p.S608S|PCDH11X_ENST00000373088.1_Silent_p.S608S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	608	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTACGCTCTCCATTTTAGATG	0.378000													19	50					2.04263e-09	2.24173e-09	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801742	20801742	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:20801742C>T	ENST00000359062.3	+	13	2726	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	896	Catalytic (By similarity).				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)	GGAATTTAAGCATTTCCGTTT	0.408000													63	144					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28057765	28057765	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:28057765G>A	ENST00000263181.6	-	14	2685	c.2396_splice	c.e14+1	p.R799_splice		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	799					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTTTGTACCGTTGTAAAATG	0.299000													8	38					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672000													4	18					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804847	9804847	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:9804847C>T	ENST00000256460.3	-	4	443	c.266G>A	c.(265-267)gGc>gAc	p.G89D	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	89	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTAGAGGTGGCCCCCACTCTC	0.577000													27	80					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41089764	41089764	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chrX:41089764A>G	ENST00000324545.7	+	44	8123	c.7490A>G	c.(7489-7491)gAc>gGc	p.D2497G	USP9X_ENST00000378308.2_Missense_Mutation_p.D2481G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2497					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGCCAGATGACCAAGATGCT	0.368000													32	40					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12950863	12950863	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:12950863C>T	ENST00000273221.4	-	11	2746	c.2530G>A	c.(2530-2532)Gcc>Acc	p.A844T		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	844	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGTTGGGGGCGTTGAAGTTT	0.537000													43	155					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795149	105795149	+	Missense_Mutation	SNP	C	C	G	rs115477628	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:105795149C>G	ENST00000393127.2	+	12	1947	c.1501C>G	c.(1501-1503)Ctg>Gtg	p.L501V	GRIA4_ENST00000530497.1_Missense_Mutation_p.L501V|GRIA4_ENST00000282499.5_Missense_Mutation_p.L501V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L501V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	501	Glutamate binding (By similarity).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TATTGCCCCTCTGACAATCAC	0.388000													96	133					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548376	35548376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35548376C>T	ENST00000455600.1	+	2	2427	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	620						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGTCCACCCAGGTCTGTCA	0.632000													8	130					0	0	1	0	0
HIST1H2AJ	8331	broad.mit.edu	37	6	27782203	27782203	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:27782203C>T	ENST00000333151.3	-	1	404	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	106					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						AGGACGCCACCCTGTGCGATG	0.537000													41	132					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887400	12887400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:12887400delG	ENST00000535591.1	-	3	652	c.457delC	c.(457-459)gcfs	p.R153fs		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	153										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGATATTGCGGAAGGGCATT	0.468													143	320	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	53	---	---	---	---					
GAS5	60674	broad.mit.edu	37	1	173833300	173833302	+	RNA	DEL	TTA	TTA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:173833300_173833302delTTA	ENST00000363840.1	-	0	58_60					NR_003938.1																						ATCAGATATTTTATTGTCATCAA	0.355													12	85	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201751633	201751634	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:201751633_201751634insT	ENST00000367296.4	+	6	2413_2414	c.1993_1994insT	c.(1993-1995)ttcfs	p.F665fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.F678fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.F665fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.F665fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.F274fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.F665fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	665					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCTGGAGCCCGTTCTAACATC	0.594													37	163	---	---	---	---					
PPFIA4	8497	broad.mit.edu	37	1	203020955	203020955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr1:203020955delC	ENST00000367240.2	+	13	2034	c.1507delC	c.(1507-1509)ccfs	p.P504fs	PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000447715.2_Frame_Shift_Del_p.P529fs|PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.P232fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.P19fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.P19fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	19	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACACACGCACCCCCAGGCGT	0.632													8	54	---	---	---	---					
C2orf43	60526	broad.mit.edu	37	2	20901391	20901391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:20901391delC	ENST00000237822.3	-	6	804	c.725delG	c.(724-726)gcfs	p.G242fs	C2orf43_ENST00000381090.3_Frame_Shift_Del_p.G242fs|C2orf43_ENST00000440866.2_Frame_Shift_Del_p.A164fs|C2orf43_ENST00000403006.2_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000541941.1_Frame_Shift_Del_p.G112fs|C2orf43_ENST00000435420.2_Frame_Shift_Del_p.G194fs	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	242										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTCTTGGCCCCCAAGGTA	0.323													88	178	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54163900	54163900	+	Splice_Site	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:54163900delC	ENST00000404125.1	-	6	815		c.e6+1		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGGATACTTACCCCCTCCCAT	0.343													68	138	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13	---	---	---	---					
NFE2L2	4780	broad.mit.edu	37	2	178096727	178096728	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:178096727_178096728insA	ENST00000397062.3	-	5	1157_1158	c.603_604insT	c.(601-606)aattgafs	p.*202fs	NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.*186fs|NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.*179fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.*186fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	202					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCATTTTCAATATTAAGACACT	0.332			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			38	86	---	---	---	---					
EPHA4	2043	broad.mit.edu	37	2	222301311	222301311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr2:222301311delA	ENST00000281821.2	-	13	2195	c.2154delT	c.(2152-2154)ttfs	p.F718fs	EPHA4_ENST00000409854.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000409938.1_Frame_Shift_Del_p.F718fs|EPHA4_ENST00000392071.4_Frame_Shift_Del_p.F667fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	718	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAATGACTGTAAATCTGCCAT	0.418													7	80	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395679	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs56041243		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:49395674_49395679delGCCGCC	ENST00000419783.1	-	1	354_359	c.33_38delGGCGGC	c.(31-39)gcc>gc	p.AAA11del	GPX1_ENST00000419349.1_In_Frame_Del_p.AAA11del|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	11					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	p.A12_A13delAA(1)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccgccg	0.694													3	4	---	---	---	---					
ZBBX	79740	broad.mit.edu	37	3	167034854	167034854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:167034854delG	ENST00000392766.2	-	14	1473	c.1133delC	c.(1132-1134)cafs	p.P378fs	ZBBX_ENST00000455345.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000392764.1_Frame_Shift_Del_p.P349fs|ZBBX_ENST00000392767.2_Frame_Shift_Del_p.P378fs|ZBBX_ENST00000469220.1_5'UTR|ZBBX_ENST00000307529.5_Frame_Shift_Del_p.P378fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	378						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTTCTACTGGCAATAAAAG	0.323													25	140	---	---	---	---					
SOX2	6657	broad.mit.edu	37	3	181430877	181430877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr3:181430877delG	ENST00000325404.1	+	1	1156	c.729delG	c.(727-729)gtfs	p.V244fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.V244fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	244					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TGGGTTCGGTGGTCAAGTCCG	0.647			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						18	96	---	---	---	---					
PABPC4L	132430	broad.mit.edu	37	4	135121436	135121436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr4:135121436delC	ENST00000421491.3	-	2	995	c.739delG	c.(739-741)ttfs	p.V247fs	PABPC4L_ENST00000529122.2_Frame_Shift_Del_p.V305fs					poly(A) binding protein, cytoplasmic 4-like											breast(1)|endometrium(2)	3						ATTTCTTCAACAGCTTTCTTG	0.443													3	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638165	176638165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr5:176638165delC	ENST00000439151.2	+	5	2810	c.2765delC	c.(2764-2766)agfs	p.T922fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.T819fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.T653fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.T653fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GATAGTAAGACGAAGGAGCAG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			23	30	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31323092	31323093	+	Splice_Site	INS	-	-	C	rs111351373		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:31323092_31323093insC	ENST00000412585.2	-	4	924		c.e4+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B									p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCCCTCCTTACCCCATCTCAG	0.589									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				23	75	---	---	---	---					
MPC1	51660	broad.mit.edu	37	6	166780350	166780351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr6:166780350_166780351insC	ENST00000341756.6	-	3	225_226	c.104_105insG	c.(103-105)gctfs	p.A35fs	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000360961.6_Frame_Shift_Ins_p.A35fs					mitochondrial pyruvate carrier 1																		CAATGGGAAGACCCCAGTTGGC	0.416													62	157	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													6	3	---	---	---	---					
NRCAM	4897	broad.mit.edu	37	7	107820812	107820813	+	Frame_Shift_Ins	INS	-	-	T	rs139634064		TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr7:107820812_107820813insT	ENST00000379028.3	-	25	3175_3176	c.2705_2706insA	c.(2704-2706)aatfs	p.N902fs	NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.N886fs|NRCAM_ENST00000425651.2_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.N883fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.N902fs|NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.N883fs			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	902	Fibronectin type-III 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGAGGATCTTTTTCTCAAT	0.470													26	58	---	---	---	---					
UBE2R2	54926	broad.mit.edu	37	9	33912052	33912053	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:33912052_33912053delGA	ENST00000263228.3	+	4	644_645	c.453_454delGA	c.(451-456)tggafs	p.WR151fs		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	151					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TCAGGAAATGGAGAGACAGTAA	0.351													13	337	---	---	---	---					
KIF24	347240	broad.mit.edu	37	9	34256863	34256866	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:34256863_34256866delCTTA	ENST00000379166.2	-	11	2858_2861	c.2739_2742delTAAG	c.(2737-2742)agfs	p.SK913fs	KIF24_ENST00000379174.3_Frame_Shift_Del_p.SK779fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.SK913fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.SK779fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	913					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCACGGGCCCCTTACTTGGGCTGC	0.529													32	357	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043713	35043725	+	Frame_Shift_Del	DEL	GCTATATCTAAGG	GCTATATCTAAGG	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr9:35043713_35043725delGCTATATCTAAGG	ENST00000312292.5	+	2	1134_1146	c.1087_1099delGCTATATCTAAGG	c.(1087-1101)acfs	p.AISKD363fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.AISKD290fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.AISKD315fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	363										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGAGGACTTGCTATATCTAAGGACTTCTGGGG	0.545													31	913	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													7	229	---	---	---	---					
RASSF7	8045	broad.mit.edu	37	11	562352	562352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:562352delC	ENST00000397583.3	+	3	831	c.398delC	c.(397-399)gcfs	p.A133fs	RASSF7_ENST00000454668.2_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000397582.3_Frame_Shift_Del_p.A133fs|RASSF7_ENST00000344375.4_Frame_Shift_Del_p.A133fs	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	133	Pro-rich.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGCCAGCCCCCAGCCTC	0.682													5	6	---	---	---	---					
PHLDB1	23187	broad.mit.edu	37	11	118521236	118521250	+	In_Frame_Del	DEL	CCTTTCCTATTATGT	CCTTTCCTATTATGT	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr11:118521236_118521250delCCTTTCCTATTATGT	ENST00000361417.2	+	21	4269_4283	c.3858_3872delCCTTTCCTATTATGT	c.(3856-3873)acg>ac	p.TLSYYV1286del	PHLDB1_ENST00000527898.1_In_Frame_Del_p.TLSYYV337del|PHLDB1_ENST00000356063.5_In_Frame_Del_p.TLSYYV1239del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.TLSYYV429del|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1286	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAAGCGCACCCTTTCCTATTATGTGGGTGAGTTC	0.567													30	105	---	---	---	---					
FOXN4	121643	broad.mit.edu	37	12	109719222	109719222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr12:109719222delG	ENST00000299162.5	-	9	1388	c.1284delC	c.(1282-1284)ttfs	p.F428fs	FOXN4_ENST00000355216.1_Frame_Shift_Del_p.F248fs	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	428					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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	p.F428F(1)|p.F248F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCTGCAGAGCGAAGTCCATGA	0.607													11	96	---	---	---	---					
STARD13	90627	broad.mit.edu	37	13	33703941	33703942	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr13:33703941_33703942insA	ENST00000336934.5	-	5	988_989	c.872_873insT	c.(871-873)tcafs	p.S291fs	STARD13_ENST00000255486.4_Frame_Shift_Ins_p.S283fs|STARD13_ENST00000399365.3_Frame_Shift_Ins_p.S173fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	291					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTCCTGCTGCAACATGGGCCC	0.559													29	53	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25451432	25451432	+	RNA	DEL	T	T	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:25451432delT	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1																						GAACCTTATATTGTCCTGAAG	0.498													193	439	---	---	---	---					
COPS2	9318	broad.mit.edu	37	15	49429627	49429628	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr15:49429627_49429628delAA	ENST00000388901.5	-	5	452_453	c.379_380delTT	c.(379-381)afs	p.L128fs	COPS2_ENST00000299259.6_Frame_Shift_Del_p.L135fs|COPS2_ENST00000542928.1_Frame_Shift_Del_p.L64fs	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	128					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTCCTGCAGTAAATCCATCTGA	0.302													16	227	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32063675	32063675	+	RNA	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:32063675delG	ENST00000566806.1	-	0	499																											AATCAGCTGCGGGGGGCACAC	0.527													18	106	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67271978	67271979	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr16:67271978_67271979delTG	ENST00000258201.4	-	6	847_848	c.600_601delCA	c.(598-603)cagtfs	p.HS200fs	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	200	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGTGTCACTGTGGGCCACCA	0.584													24	103	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579437	7579437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:7579437delC	ENST00000420246.2	-	4	382	c.250delG	c.(250-252)ccfs	p.A84fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.A84fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.A84fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.A84fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	84	Interaction with WWOX.		A -> G (in sporadic cancers; somatic mutation).|A -> V (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.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A83fs*39(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A83fs*35(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)		GGTGCAGGGGCCGCCGGTGTA	0.617		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)			85	65	---	---	---	---					
CCL8	6355	broad.mit.edu	37	17	32646523	32646523	+	Translation_Start_Site	DEL	G	G	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:32646523delG	ENST00000394620.1	+	0	469					NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8						calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				CCTCCAAGATGAAGGTTTCTG	0.547													42	46	---	---	---	---					
KLHL11	55175	broad.mit.edu	37	17	40011269	40011270	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr17:40011269_40011270insTC	ENST00000319121.3	-	2	909_910	c.849_850insGA	c.(847-852)agacttfs	p.L284fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	284	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTCAAAGTATCTCTCTCTCT	0.401													42	98	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													10	127	---	---	---	---					
ASXL3	80816	broad.mit.edu	37	18	31325879	31325879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr18:31325879delC	ENST00000269197.5	+	12	6067	c.6067delC	c.(6067-6069)ccfs	p.P2028fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2028	Pro-rich.				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						gccaccgcctccccctccccc	0.592													8	21	---	---	---	---					
ELAVL1	1994	broad.mit.edu	37	19	8056655	8056656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UF-A71D-01A-12D-A34J-08	TCGA-UF-A71D-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7995bd4-2d0f-428b-b832-427f773623a4	8991d2ba-61d0-4c7a-85da-f369b128d6a5	g.chr19:8056655_8056656insC	ENST00000407627.2	-	2	173_174	c.44_45insG	c.(43-45)ggafs	p.G15fs	ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.G15fs|ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.G42fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.G15fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	15					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCGATGTCACCCCTGCAGTC	0.421													39	156	---	---	---	---