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
SULT2A1	6822	broad.mit.edu	37	19	48382293	48382293	+	Splice_Site	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:48382293C>A	ENST00000222002.3	-	4	706	c.567_splice	c.e4+1	p.Q189_splice		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	189					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.Q189H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		ATGGGATTACCTGTTTCAGCT	0.463000													68	104					1.15062e-32	2.10595e-32	0.014410	1	0
CNDP2	55748	broad.mit.edu	37	18	72183517	72183517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:72183517G>T	ENST00000324262.4	+	9	1274	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	CNDP2_ENST00000324301.8_Nonsense_Mutation_p.E236*|CNDP2_ENST00000579847.1_Nonsense_Mutation_p.E320*	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	320						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	p.E320*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCATGGCATCGAAGGCGCCTT	0.572000													29	73					6.00712e-18	9.98684e-18	0.012213	1	0
ALLC	55821	broad.mit.edu	37	2	3749102	3749102	+	Splice_Site	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:3749102G>A	ENST00000252505.3	+	11	1013	c.850_splice	c.e11-1	p.G284_splice	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	303							allantoicase activity	p.G284D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCTCCAACAGGCAATGCTCCT	0.468000										HNSCC(21;0.051)			3	6					0	0	0.004672	0	0
PAX4	5078	broad.mit.edu	37	7	127253552	127253552	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:127253552G>T	ENST00000341640.2	-	5	778	c.573C>A	c.(571-573)gcC>gcA	p.A191A	PAX4_ENST00000378740.2_Silent_p.A191A|PAX4_ENST00000338516.3_Silent_p.A199A|PAX4_ENST00000463946.1_Silent_p.A189A	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	199			R -> C.		cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A191A(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCTTTCCACGGGCCACTGAAT	0.582000													20	35					1.96292e-10	2.64597e-10	0.010504	1	0
ADAP2	55803	broad.mit.edu	37	17	29280311	29280311	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:29280311G>T	ENST00000330889.3	+	8	1082	c.747G>T	c.(745-747)gtG>gtT	p.V249V	ADAP2_ENST00000580525.1_Silent_p.V255V	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	249					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.V249V(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCCAGCTCGTGCCATTCCTCA	0.522000													17	28					2.39187e-15	3.64259e-15	0.008871	1	0
GABRQ	55879	broad.mit.edu	37	X	151814000	151814000	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:151814000C>A	ENST00000370306.2	+	3	271	c.251C>A	c.(250-252)cCt>cAt	p.P84H		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	84						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.P84H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCCTGTGCCTGTGAGAATA	0.448000													28	52					2.46105e-21	4.30684e-21	0.010818	1	0
MCOLN3	55283	broad.mit.edu	37	1	85494886	85494886	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:85494886T>C	ENST00000370587.1	-	8	1111	c.735A>G	c.(733-735)atA>atG	p.I245M	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.I189M|MCOLN3_ENST00000370589.2_Missense_Mutation_p.I245M			Q8TDD5	MCLN3_HUMAN	mucolipin 3	245						integral to membrane	ion channel activity	p.I245M(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGTCAAATGTTATCTGTGAAG	0.348000													3	47					0	0	0.004672	0	0
ZNF91	7644	broad.mit.edu	37	19	23543380	23543380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:23543380C>A	ENST00000300619.7	-	4	2606	c.2401G>T	c.(2401-2403)Gaa>Taa	p.E801*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E769*|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	801						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E801*(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTCACATTTGTAG	0.398000													30	54					9.39395e-14	1.40909e-13	0.006320	1	0
SNTG1	54212	broad.mit.edu	37	8	51621445	51621445	+	Splice_Site	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:51621445G>T	ENST00000522124.1	+	17	1852		c.e17-1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.?(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTCTACCTAGTGCAAGACCT	0.343000													38	56					5.43694e-19	9.24836e-19	0.005524	1	0
SH3D21	79729	broad.mit.edu	37	1	36786292	36786292	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:36786292C>A	ENST00000453908.2	+	14	2056	c.2028C>A	c.(2026-2028)gtC>gtA	p.V676V	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Silent_p.V560V|SH3D21_ENST00000505871.1_Silent_p.V565V|SH3D21_ENST00000312808.4_Silent_p.V322V	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	560								p.V322V(1)|p.V676V(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCTCGCTGGTCCCGCAAAACT	0.572000													5	17					0.000602214	0.000661938	0.000602	1	0
OR13A1	79290	broad.mit.edu	37	10	45799491	45799491	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:45799491G>A	ENST00000553795.1	-	4	688	c.380C>T	c.(379-381)tCc>tTc	p.S127F	OR13A1_ENST00000374401.2_Missense_Mutation_p.S127F|OR13A1_ENST00000536058.1_Missense_Mutation_p.S127F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S127F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CAGCTCTGAGGATGCAGCCCA	0.602000													3	13					0	0	0.004672	0	0
ACTA1	58	broad.mit.edu	37	1	229568145	229568145	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:229568145T>A	ENST00000366684.3	-	4	590	c.488A>T	c.(487-489)cAc>cTc	p.H163L	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	163					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.H163L(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGGCACGTTGTGGGTGACGCC	0.672000													6	33					0	0	0.001984	0	0
CSAD	51380	broad.mit.edu	37	12	53565130	53565130	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:53565130C>A	ENST00000267085.4	-	8	861	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	CSAD_ENST00000444623.1_Missense_Mutation_p.A183S|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.A183S|CSAD_ENST00000379843.3_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	183					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	p.A210S(1)|p.A183S(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTGAATAGGGCCAGGGGCGGC	0.582000													22	56					5.35047e-06	6.31609e-06	0.003330	1	0
CALCRL	10203	broad.mit.edu	37	2	188211044	188211044	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:188211044C>A	ENST00000409998.1	-	16	2034	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CALCRL_ENST00000410068.1_Missense_Mutation_p.S418I|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S418I			Q16602	CALRL_HUMAN	calcitonin receptor-like	418						integral to plasma membrane		p.S418I(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTAAGACGCACTACGAAGAGC	0.368000													12	24					5.50884e-06	6.44582e-06	0.013537	1	0
SF3A1	10291	broad.mit.edu	37	22	30742488	30742488	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr22:30742488G>C	ENST00000439242.1	-	3	337	c.206C>G	c.(205-207)gCt>gGt	p.A69G	SF3A1_ENST00000215793.7_Missense_Mutation_p.A69G	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	69					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.A69G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCGGATCCTAGCTTCAAATTC	0.483000													38	65					0	0	0.007835	0	0
SULF1	23213	broad.mit.edu	37	8	70536413	70536413	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:70536413A>T	ENST00000260128.4	+	15	2548	c.1831A>T	c.(1831-1833)Act>Tct	p.T611S	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T611S|SULF1_ENST00000419716.3_Missense_Mutation_p.T611S|SULF1_ENST00000458141.2_Missense_Mutation_p.T611S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	611					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T611S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCCACCTACCACTGTCCGAGT	0.507000													10	21					0	0	0.008291	0	0
TATDN3	128387	broad.mit.edu	37	1	212977679	212977679	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:212977679C>T	ENST00000366974.4	+	6	433	c.339C>T	c.(337-339)tcC>tcT	p.S113S	TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000531963.1_Silent_p.S113S|TATDN3_ENST00000526641.1_Silent_p.S92S|TATDN3_ENST00000526997.1_Silent_p.S113S|TATDN3_ENST00000532324.1_Silent_p.S113S|TATDN3_ENST00000366973.4_Silent_p.S113S|TATDN3_ENST00000530441.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	113						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.S113S(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TAGATTTCTCCCCCAGATTTG	0.383000													8	41					0	0	0.004482	0	0
LAX1	54900	broad.mit.edu	37	1	203740015	203740015	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:203740015T>A	ENST00000442561.2	+	2	539	c.149T>A	c.(148-150)cTg>cAg	p.L50Q	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.L34Q	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	50					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.L50Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCATCCTCCTGGTCGTTGCG	0.453000													41	125					0	0	0.014410	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115531754	115531754	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:115531754G>A	ENST00000361048.1	+	8	905	c.578G>A	c.(577-579)gGa>gAa	p.G193E	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.G187E|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.G105E|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.G7E	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1									p.G105E(1)|p.G193E(1)									AGTTCTCCAGGATTTAGGCAA	0.348000													39	74					0	0	0.006999	0	0
RAB30	27314	broad.mit.edu	37	11	82698683	82698683	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:82698683A>T	ENST00000533486.1	-	5	591	c.307T>A	c.(307-309)Tgg>Agg	p.W103R	RAB30_ENST00000532548.1_Missense_Mutation_p.W103R|RAB30_ENST00000527633.1_Missense_Mutation_p.W103R|RAB30_ENST00000525117.1_Missense_Mutation_p.W75R|RAB30_ENST00000534141.1_Missense_Mutation_p.W103R|RAB30_ENST00000260056.2_Missense_Mutation_p.W103R|RP11-659G9.3_ENST00000527550.1_RNA	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	103					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	p.W103R(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCGCAGCCACTCAGGAAGG	0.483000													31	59					0	0	0.010818	0	0
C1orf189	388701	broad.mit.edu	37	1	154172963	154172963	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:154172963A>T	ENST00000368525.3	-	3	201	c.176T>A	c.(175-177)tTg>tAg	p.L59*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	59								p.L59*(1)		kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGCCAGTGCCAATTCCTGTAC	0.488000													90	198					0	0	0.014410	0	0
RHOU	58480	broad.mit.edu	37	1	228871753	228871753	+	Splice_Site	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:228871753T>A	ENST00000366691.3	+	1	928		c.e1+2			NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U						regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACTTCTCCGGTGAGCTggccg	0.716000													10	24					0	0	0.010729	0	0
CTU2	348180	broad.mit.edu	37	16	88780888	88780888	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:88780888G>C	ENST00000567949.1	+	11	1417	c.1408G>C	c.(1408-1410)Gcc>Ccc	p.A470P	CTU2_ENST00000453996.2_Missense_Mutation_p.A399P|CTU2_ENST00000378384.3_Missense_Mutation_p.A312P|CTU2_ENST00000312060.5_Missense_Mutation_p.A399P			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	399					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	p.A399P(1)		NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGACGTCGACGCCGCTGGTCT	0.687000													27	47					0	0	0.006320	0	0
RPH3A	22895	broad.mit.edu	37	12	113314634	113314634	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:113314634G>A	ENST00000389385.4	+	13	1631	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	RPH3A_ENST00000548866.1_Silent_p.E329E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.E378E|RPH3A_ENST00000551052.1_Silent_p.E374E|RPH3A_ENST00000420983.2_Silent_p.E378E|RPH3A_ENST00000543106.2_Silent_p.E378E|RPH3A_ENST00000447659.2_Silent_p.E329E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	378					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.E374E(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGAGGAGGAGGAAGAGGAAG	0.587000													18	45					0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141093302	141093302	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:141093302G>T	ENST00000389484.3	-	78	12969	c.11998C>A	c.(11998-12000)Cac>Aac	p.H4000N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4000					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.H4000N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGTCCAGTGAGTAGTGTAG	0.463000										TSP Lung(27;0.18)			29	67					1.2476e-16	1.99916e-16	0.006320	1	0
PKD1	5310	broad.mit.edu	37	16	2158452	2158452	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:2158452G>A	ENST00000262304.4	-	15	6924	c.6716C>T	c.(6715-6717)aCg>aTg	p.T2239M	PKD1_ENST00000423118.1_Missense_Mutation_p.T2239M	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2239	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.T2239M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTCAGTGGCGTGTCCCCAAA	0.657000													38	27					0	0	0.006230	0	0
GJC1	10052	broad.mit.edu	37	17	42882827	42882827	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:42882827C>T	ENST00000426548.1	-	3	628	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GJC1_ENST00000330514.4_Missense_Mutation_p.R120H|GJC1_ENST00000592524.1_Missense_Mutation_p.R120H|GJC1_ENST00000590758.1_Missense_Mutation_p.R120H	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	120					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.R120H(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TTGTTTCCAGCGCATTGCATA	0.488000													25	97					0	0	0.002780	0	0
AKAP3	10566	broad.mit.edu	37	12	4737964	4737964	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:4737964G>T	ENST00000545990.2	-	5	628	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	AKAP3_ENST00000228850.1_Missense_Mutation_p.S35Y	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	35					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S35Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGGATCCGTGGAGGTGTCCTT	0.438000													17	31					5.03518e-11	6.92772e-11	0.007413	1	0
SAG	6295	broad.mit.edu	37	2	234217807	234217807	+	Splice_Site	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:234217807G>T	ENST00000409110.1	+	2	202		c.e2-1			NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)						rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AACACCCCAAGGTGGTAGAAG	0.473000													5	10					5.9392e-07	7.20286e-07	0.001168	1	0
OR1L3	26735	broad.mit.edu	37	9	125437680	125437680	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:125437680C>A	ENST00000304820.2	+	1	366	c.272C>A	c.(271-273)aCc>aAc	p.T91N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GAGAAAAAGACCATTTCCTAT	0.408000													49	185					2.24722e-20	3.89844e-20	0.014410	1	0
OR6F1	343169	broad.mit.edu	37	1	247875220	247875220	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:247875220C>G	ENST00000302084.2	-	1	885	c.838G>C	c.(838-840)Gtg>Ctg	p.V280L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGTCACCACAGTGTTCAGG	0.453000													41	125					0	0	0.011902	0	0
ZNF266	10781	broad.mit.edu	37	19	9525173	9525173	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:9525173T>A	ENST00000592904.1	-	5	2504	c.428A>T	c.(427-429)gAt>gTt	p.D143V	ZNF266_ENST00000361451.2_Missense_Mutation_p.D143V|ZNF266_ENST00000592292.1_Missense_Mutation_p.D143V|ZNF266_ENST00000590306.1_Missense_Mutation_p.D143V|ZNF266_ENST00000588933.1_Missense_Mutation_p.D143V|ZNF266_ENST00000588221.1_Missense_Mutation_p.D143V|ZNF266_ENST00000361151.1_Missense_Mutation_p.D143V			Q14584	ZN266_HUMAN	zinc finger protein 266	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D143V(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GCAAACAACATCTGGGTTCAG	0.438000													58	94					0	0	0.014410	0	0
GALR1	2587	broad.mit.edu	37	18	74980680	74980680	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:74980680T>A	ENST00000299727.3	+	3	872	c.872T>A	c.(871-873)cTg>cAg	p.L291Q		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	291					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.L291Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCCCACTGCCTGGCGTACAGC	0.493000													25	63					0	0	0.003954	0	0
LEPR	3953	broad.mit.edu	37	1	66101910	66101910	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:66101910G>A	ENST00000349533.6	+	20	2895	c.2710G>A	c.(2710-2712)Gca>Aca	p.A904T	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	904					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.A904T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAGCATACAGCATCAGTGAC	0.338000													56	117					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240370521	240370521	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:240370521C>A	ENST00000319653.9	+	5	2639	c.2409C>A	c.(2407-2409)ccC>ccA	p.P803P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	803	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P946P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCATCAGCCCACACAGAGCA	0.547000													20	49					2.94398e-08	3.75287e-08	0.007413	1	0
MAST4	375449	broad.mit.edu	37	5	66462274	66462274	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:66462274G>C	ENST00000404260.3	+	29	7584	c.7276G>C	c.(7276-7278)Ggt>Cgt	p.G2426R	MAST4_ENST00000403666.1_Missense_Mutation_p.G2234R|MAST4_ENST00000405643.1_Missense_Mutation_p.G2244R|MAST4_ENST00000403625.2_Missense_Mutation_p.G2423R|MAST4_ENST00000261569.7_Missense_Mutation_p.G2229R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2426						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G2426R(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAAAGGGCCCGGTCCCCAGAA	0.662000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	0.000602	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257289	54257289	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:54257289A>T	ENST00000507166.1	+	8	619	c.619A>T	c.(619-621)Act>Tct	p.T207S	FIP1L1_ENST00000507922.1_Missense_Mutation_p.T192S|FIP1L1_ENST00000358575.5_Missense_Mutation_p.T192S|FIP1L1_ENST00000306932.6_Missense_Mutation_p.T192S|FIP1L1_ENST00000337488.6_Missense_Mutation_p.T207S			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	207	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding	p.T207S(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTAACCTCTACTACAAATAA	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								41	87					0	0	0.008740	0	0
NPHP3	27031	broad.mit.edu	37	3	132438549	132438549	+	Splice_Site	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:132438549C>G	ENST00000326682.8	-	2	595	c.519_splice	c.e2+1	p.K173_splice	NPHP3_ENST00000343113.4_Splice_Site_p.K173_splice|NPHP3_ENST00000337331.5_Splice_Site_p.K173_splice			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	173					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.K173N(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAATTTACCTTGAATTGCC	0.299000													21	69					0	0	0.005443	0	0
PXMP4	11264	broad.mit.edu	37	20	32295577	32295577	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:32295577C>A	ENST00000409299.3	-	4	666	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	192						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	p.D192Y(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ACATTGCTGTCCTCATAGAGG	0.557000													37	72					1.49673e-21	2.63082e-21	0.006230	1	0
TNR	7143	broad.mit.edu	37	1	175335276	175335276	+	Splice_Site	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:175335276T>A	ENST00000367674.1	-	11	2762		c.e11-2		TNR_ENST00000263525.2_Splice_Site	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.?(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTCAAGTTCTGTGGATTGAC	0.527000													8	27					0	0	0.004482	0	0
TRHR	7201	broad.mit.edu	37	8	110100469	110100469	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:110100469C>A	ENST00000518632.1	+	2	1079	c.728C>A	c.(727-729)aCa>aAa	p.T243K	TRHR_ENST00000311762.2_Missense_Mutation_p.T243K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	243						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.T243K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CATCAGAACACAAATCTGAAT	0.353000													21	35					1.96292e-10	2.64597e-10	0.010504	1	0
FAT3	120114	broad.mit.edu	37	11	92257849	92257849	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:92257849C>T	ENST00000298047.6	+	2	3359	c.3342C>T	c.(3340-3342)taC>taT	p.Y1114Y	FAT3_ENST00000541502.1_Silent_p.Y1114Y|FAT3_ENST00000525166.1_Silent_p.Y964Y|FAT3_ENST00000409404.2_Silent_p.Y1114Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1114	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y1114Y(2)		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)				TGGGGTCATACTGGCTAACAG	0.473000										TCGA Ovarian(4;0.039)			18	26					0	0	0.008871	0	0
SYNE1	23345	broad.mit.edu	37	6	152640091	152640091	+	Silent	SNP	C	C	T	rs144376043	byFrequency	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:152640091C>T	ENST00000367255.5	-	85	16897	c.16296G>A	c.(16294-16296)cgG>cgA	p.R5432R	SYNE1_ENST00000448038.1_Silent_p.R5361R|SYNE1_ENST00000341594.5_Silent_p.R5105R|SYNE1_ENST00000423061.1_Silent_p.R5361R|SYNE1_ENST00000265368.4_Silent_p.R5432R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5432					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	p.R5432R(2)|p.R5361R(1)		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)		TCTGAATTTGCCGGCTGAGTT	0.388000										HNSCC(10;0.0054)			3	34					0	0	0.009096	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402588	89402588	+	RNA	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:89402588A>G	ENST00000532352.1	+	0	825							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.S4S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGGGTGGCTCAGCACCACCAG	0.378000													19	37					0	0	0.010504	0	0
ERBB4	2066	broad.mit.edu	37	2	212285330	212285330	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:212285330C>T	ENST00000342788.4	-	25	3281	c.2971G>A	c.(2971-2973)Gat>Aat	p.D991N	ERBB4_ENST00000436443.1_Missense_Mutation_p.D991N|ERBB4_ENST00000402597.1_Missense_Mutation_p.D981N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D991N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCATACGATCATCACCCTAA	0.353000										TSP Lung(8;0.080)			12	22					0	0	0.013537	0	0
OR2G6	391211	broad.mit.edu	37	1	248685450	248685450	+	Missense_Mutation	SNP	T	T	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:248685450T>G	ENST00000343414.4	+	1	535	c.503T>G	c.(502-504)cTc>cGc	p.L168R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L168R(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCTGCCCCTCTGTGGTCAT	0.547000													11	42					0	0	0.010729	0	0
SYNE3	161176	broad.mit.edu	37	14	95884179	95884179	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:95884179C>A	ENST00000334258.5	-	17	2926	c.2912G>T	c.(2911-2913)gGc>gTc	p.G971V	SYNE3_ENST00000557275.1_Missense_Mutation_p.G966V|SYNE3_ENST00000554873.1_Missense_Mutation_p.G728V	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.G971V(3)		breast(1)|endometrium(2)|lung(25)	28						GGGTGGTGGGCCATTGTAGCG	0.622000													76	70					2.56221e-42	4.84513e-42	0.014410	1	0
WDR7	23335	broad.mit.edu	37	18	54398639	54398639	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:54398639G>T	ENST00000254442.3	+	14	2011	c.1800G>T	c.(1798-1800)ggG>ggT	p.G600G	WDR7_ENST00000357574.3_Silent_p.G600G|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	600								p.G600G(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTGTGATGGGGATAACAGCAG	0.368000													19	41					1.2644e-06	1.50596e-06	0.010504	1	0
RRP12	23223	broad.mit.edu	37	10	99125989	99125989	+	Splice_Site	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:99125989G>A	ENST00000370992.4	-	29	3504	c.3391_splice	c.e29-1	p.A1131_splice	RRP12_ENST00000414986.1_Splice_Site_p.A1070_splice|RRP12_ENST00000315563.6_Splice_Site_p.A1031_splice|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Splice_Site_p.A849_splice	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1131						integral to membrane|nuclear membrane|nucleolus	protein binding	p.A1131A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTGGCTGCGTGGCTGGGGTGT	0.627000													14	27					0	0	0.004007	0	0
DSC3	1825	broad.mit.edu	37	18	28609517	28609517	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:28609517C>A	ENST00000434452.1	-	4	586	c.432G>T	c.(430-432)atG>atT	p.M144I	DSC3_ENST00000360428.4_Missense_Mutation_p.M144I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	144	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.M144I(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATTCTCTTGCATAGAGCAAG	0.413000													30	43					1.39806e-14	2.11297e-14	0.008361	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58563859	58563859	+	Splice_Site	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:58563859C>A	ENST00000282326.1	+	5	714	c.465_splice	c.e5-1	p.A156_splice		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	156					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A156E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCATTCTAGGCGTCTGAGCTG	0.617000													29	43					5.45727e-16	8.53902e-16	0.008361	1	0
POLR3A	11128	broad.mit.edu	37	10	79742445	79742445	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:79742445T>A	ENST00000372371.3	-	27	3697	c.3560A>T	c.(3559-3561)tAc>tTc	p.Y1187F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1187					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.Y1187F(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGCAGCACGTAGTACATGGA	0.562000													11	31					0	0	0.001855	0	0
SLC9C2	284525	broad.mit.edu	37	1	173545825	173545825	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:173545825G>T	ENST00000367714.3	-	8	1299	c.877C>A	c.(877-879)Ccg>Acg	p.P293T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.P191T|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	293					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.P293T(1)									TCGATCTTCGGTTTAAAAGTT	0.398000													10	31					0.000673444	0.000738198	0.008291	1	0
STAB2	55576	broad.mit.edu	37	12	104096985	104096985	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:104096985C>A	ENST00000388887.2	+	35	3978	c.3774C>A	c.(3772-3774)atC>atA	p.I1258I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1258	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.I1258I(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGAGTGATCCATGGCTTGG	0.388000													41	50					8.69298e-16	1.34961e-15	0.006999	1	0
PDYN	5173	broad.mit.edu	37	20	1961379	1961379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:1961379C>A	ENST00000217305.2	-	4	580	c.355G>T	c.(355-357)Gag>Tag	p.E119*	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Nonsense_Mutation_p.E119*|PDYN_ENST00000539905.1_Nonsense_Mutation_p.E119*	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	119					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.K118_E119>N*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGTGTTCTCCTTTGTTGAG	0.552000													38	69					5.04308e-16	7.922e-16	0.006230	1	0
IGHV3-66	28412	broad.mit.edu	37	14	107131482	107131482	+	RNA	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:107131482G>T	ENST00000390632.2	-	0	78																											CAAACTCCATGGCGAGTCCTC	0.507000													46	39					6.3008e-33	1.15853e-32	0.014410	1	0
NPHS1	4868	broad.mit.edu	37	19	36332708	36332708	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:36332708G>A	ENST00000378910.5	-	20	2723	c.2724C>T	c.(2722-2724)aaC>aaT	p.N908N	NPHS1_ENST00000353632.6_Silent_p.N908N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	908	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.N908N(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGCAGACACGTTGGCAATGG	0.562000													8	20					0	0	0.003080	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322156	150322156	+	RNA	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:150322156T>A	ENST00000520773.1	-	0	1328																											CACATCCCTGTACAGGGTCCT	0.502000													22	30					0	0	0.012319	0	0
ANAPC4	29945	broad.mit.edu	37	4	25408818	25408818	+	Splice_Site	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:25408818G>T	ENST00000315368.3	+	20	1516		c.e20-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTTTTTCCAGGCTCCAGACC	0.338000													8	22					1.26484e-09	1.66011e-09	0.003080	1	0
ABR	29	broad.mit.edu	37	17	960259	960259	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:960259G>C	ENST00000544583.2	-	13	1926	c.1327C>G	c.(1327-1329)Cct>Gct	p.P443A	ABR_ENST00000536794.2_Missense_Mutation_p.P271A|ABR_ENST00000302538.5_Missense_Mutation_p.P489A|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Missense_Mutation_p.P443A|ABR_ENST00000291107.2_Missense_Mutation_p.P452A	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	489	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.P489A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGGTGACAGGAATGTTGTGT	0.582000													38	103					0	0	0.009718	0	0
PTPRT	11122	broad.mit.edu	37	20	41306789	41306789	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:41306789C>T	ENST00000373198.3	-	7	1105	c.870G>A	c.(868-870)acG>acA	p.T290T	PTPRT_ENST00000373201.1_Silent_p.T290T|PTPRT_ENST00000373187.1_Silent_p.T290T|PTPRT_ENST00000356100.2_Silent_p.T290T|PTPRT_ENST00000373184.1_Silent_p.T290T|PTPRT_ENST00000373190.1_Silent_p.T290T|PTPRT_ENST00000373193.3_Silent_p.T290T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	290	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.T290T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGCAATGGGCGTGGGAGGCT	0.517000													17	17					0	0	0.004007	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712605	1712605	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:1712605G>C	ENST00000313871.3	+	2	446	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E84Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	84	PKA-RI and PKA-RII subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.E84Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGGGGAGGTGGAGAACAAGAG	0.587000													62	120					0	0	0.014410	0	0
MUCL1	118430	broad.mit.edu	37	12	55250629	55250629	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:55250629C>A	ENST00000308796.6	+	3	222	c.176C>A	c.(175-177)aCc>aAc	p.T59N	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.T54N	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	59	3 X 8 AA tandem repeat of T-T-A-A-[APS]- T-T-A.|Thr-rich.					extracellular region|membrane		p.T59N(1)		breast(1)|kidney(1)|lung(1)	3						gctgctcctaccactgcaacc	0.507000													27	41					2.44723e-14	3.6847e-14	0.004656	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849422	171849422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:171849422G>A	ENST00000311601.5	-	2	324	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	SH3PXD2B_ENST00000519643.1_Nonsense_Mutation_p.Q52*	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	52	PX.				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	p.Q52*(1)		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)			ATCCTTACCTGGAGGTCAAAA	0.488000													3	7					0	0	0.004672	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773464	140773464	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:140773464C>T	ENST00000398604.2	+	1	1084	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1												p.P362S(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTCTTCCCGGGACAGT	0.403000													12	34					0	0	0.010729	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980354	158980354	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:158980354G>T	ENST00000485419.1	+	4	342	c.173G>T	c.(172-174)cGa>cTa	p.R58L	IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Missense_Mutation_p.R58L|IQCJ_ENST00000482126.1_Missense_Mutation_p.R31L|IQCJ_ENST00000397832.2_Missense_Mutation_p.R58L|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R31L	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding	p.R58L(3)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CGAGCATGGCGAGAGTACCTG	0.517000													26	86					3.1745e-13	4.63965e-13	0.008361	1	0
MAP3K4	4216	broad.mit.edu	37	6	161519411	161519411	+	Missense_Mutation	SNP	G	G	T	rs144235437		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:161519411G>T	ENST00000392142.4	+	17	3774	c.3626G>T	c.(3625-3627)gGt>gTt	p.G1209V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1205V|MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1209					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.G1209V(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGCCCCTCTGGTGGTGACTCT	0.632000													53	34					1.04682e-39	1.97019e-39	0.014410	1	0
MYCBP2	23077	broad.mit.edu	37	13	77640183	77640183	+	Missense_Mutation	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:77640183A>G	ENST00000407578.2	-	72	12762	c.12496T>C	c.(12496-12498)Tca>Cca	p.S4166P	MYCBP2_ENST00000544440.2_Missense_Mutation_p.S4128P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S4128P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.S4166P(1)|p.S4128P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTAGGGGTTGAGCCCTTCATC	0.398000													3	102					0	0	0.009096	0	0
ANK2	287	broad.mit.edu	37	4	114278501	114278501	+	Silent	SNP	C	C	A	rs144821187	byFrequency	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:114278501C>A	ENST00000357077.4	+	38	8780	c.8727C>A	c.(8725-8727)ccC>ccA	p.P2909P	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.P2876P|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2876					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P2909P(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGATGTTCCCGTGTCTGACC	0.393000													85	230					6.07207e-39	1.13744e-38	0.014410	1	0
MYH2	4620	broad.mit.edu	37	17	10450851	10450851	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:10450851G>A	ENST00000245503.5	-	4	673	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.L97L|MYH2_ENST00000397183.2_Silent_p.L97L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	97	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L97L(1)		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						GGCTCATGCAGATGAGTCATC	0.483000													5	188					0	0	0.001168	0	0
ZC3H14	79882	broad.mit.edu	37	14	89034479	89034479	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:89034479C>G	ENST00000251038.5	+	3	401	c.176C>G	c.(175-177)aCa>aGa	p.T59R	ZC3H14_ENST00000555755.1_Missense_Mutation_p.T59R|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.T59R|ZC3H14_ENST00000393514.5_Missense_Mutation_p.T59R|ZC3H14_ENST00000302216.8_Missense_Mutation_p.T59R|ZC3H14_ENST00000336693.4_Missense_Mutation_p.T25R|ZC3H14_ENST00000359301.3_Missense_Mutation_p.T25R	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	59						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	p.T59R(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGGAACAACACAATTCGATTC	0.418000													27	19					0	0	0.008361	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841487	8841487	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:8841487G>C	ENST00000324060.2	+	1	172	c.97G>C	c.(97-99)Gtc>Ctc	p.V33L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGGTGGCTGTCATGTTTGT	0.547000													19	44					0	0	0.007413	0	0
MYH1	4619	broad.mit.edu	37	17	10401161	10401161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:10401161C>A	ENST00000226207.5	-	31	4349	c.4255G>T	c.(4255-4257)Gag>Tag	p.E1419*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1419						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1419*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCGTCTTCTCAAGGGAAGCA	0.473000													34	55					1.8613e-05	2.15263e-05	0.004289	1	0
NXF4	55999	broad.mit.edu	37	X	101818963	101818963	+	RNA	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:101818963C>A	ENST00000360035.2	+	0	1247					NR_002216.1													p.S168S(1)		endometrium(2)|lung(8)	10						CTGACCAGTCCGCCTATGTAA	0.557000													13	19					4.3838e-07	5.36545e-07	0.001855	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654208	61654208	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:61654208A>T	ENST00000397985.2	+	7	1077	c.821A>T	c.(820-822)gAg>gTg	p.E274V	SERPINB8_ENST00000353706.2_Missense_Mutation_p.E274V|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E92V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	274					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.E274V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTAAAGCTGGAGGAGAGTTAT	0.393000													45	64					0	0	0.014410	0	0
PXK	54899	broad.mit.edu	37	3	58381436	58381436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:58381436C>T	ENST00000463280.1	+	7	764	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	PXK_ENST00000383715.4_Nonsense_Mutation_p.Q241*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q225*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q241*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q241*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q258*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q258*|PXK_ENST00000536660.1_Nonsense_Mutation_p.Q121*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	258	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.Q258*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TAAGAAGATTCAGGGCCTGGA	0.388000													36	64					0	0	0.006230	0	0
GNAS	2778	broad.mit.edu	37	20	57485035	57485035	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:57485035T>C	ENST00000371100.4	+	11	3350	c.2798T>C	c.(2797-2799)tTc>tCc	p.F933S	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.F276S|GNAS_ENST00000371085.3_Missense_Mutation_p.F290S|GNAS_ENST00000371095.3_Missense_Mutation_p.F276S|GNAS_ENST00000354359.7_Missense_Mutation_p.F291S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.F919S|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.F275S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	290					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.F933S(1)|p.F290S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGATCCTGTTCCTCAACAAG	0.522000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			11	65					0	0	0.010729	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195832	132195832	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:132195832G>A	ENST00000261674.4	+	1	199	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E20K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	20					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	p.E20K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGCGAAGGAGGAGGCCGGGCC	0.716000													13	20					0	0	0.001855	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900661	28900661	+	RNA	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:28900661A>T	ENST00000528584.1	+	0	162					NR_036443.1																						GAGGTGGCGCAGGGTGTGCCC	0.637000													11	27					0	0	0.010729	0	0
DIABLO	56616	broad.mit.edu	37	12	122693021	122693021	+	Silent	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:122693021T>A	ENST00000464942.2	-	5	1861	c.468A>T	c.(466-468)gcA>gcT	p.A156A	DIABLO_ENST00000443649.3_Silent_p.A209A|DIABLO_ENST00000353548.6_Silent_p.A165A|DIABLO_ENST00000267169.6_Silent_p.A156A|B3GNT4_ENST00000546192.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000413918.1_Silent_p.A165A	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	209					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	p.A209A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCTGTGCTTCTGCCAGCTTGG	0.572000													16	43					0	0	0.004007	0	0
SH3D21	79729	broad.mit.edu	37	1	36786257	36786257	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:36786257G>T	ENST00000453908.2	+	14	2021	c.1993G>T	c.(1993-1995)Gac>Tac	p.D665Y	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.D549Y|SH3D21_ENST00000505871.1_Missense_Mutation_p.D554Y|SH3D21_ENST00000312808.4_Missense_Mutation_p.D311Y	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	549								p.D311Y(1)|p.D665Y(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GCCGCCTCCAGACTCCCAAGA	0.552000													19	19					1.56452e-12	2.22945e-12	0.007413	1	0
KCNH2	3757	broad.mit.edu	37	7	150656702	150656702	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:150656702C>A	ENST00000392968.2	-	1	1262	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	KCNH2_ENST00000262186.5_Missense_Mutation_p.D144Y|KCNH2_ENST00000430723.3_Missense_Mutation_p.D144Y			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	144	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.D144Y(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGGTTGGTGTCATGAGCCGGG	0.592000													22	30					1.7367e-05	2.01437e-05	0.006320	1	0
RPL3	6122	broad.mit.edu	37	22	39709669	39709669	+	Silent	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr22:39709669T>A	ENST00000216146.4	-	8	1190	c.1017A>T	c.(1015-1017)ggA>ggT	p.G339G	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.G287G	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	339					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.G339G(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GCTTCTTGGTTCCCACCACAC	0.577000													112	211					0	0	0.014410	0	0
GPR125	166647	broad.mit.edu	37	4	22389449	22389449	+	Missense_Mutation	SNP	C	C	A	rs149299752		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:22389449C>A	ENST00000334304.5	-	19	4114	c.3845G>T	c.(3844-3846)gGc>gTc	p.G1282V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1282					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.G1282V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAAGTTGAGGCCATAAGATTT	0.433000													26	41					1.88708e-17	3.09855e-17	0.008361	1	0
SUSD4	55061	broad.mit.edu	37	1	223402684	223402684	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:223402684G>T	ENST00000343846.3	-	5	1404	c.771C>A	c.(769-771)caC>caA	p.H257Q	SUSD4_ENST00000366878.4_Missense_Mutation_p.H257Q|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.H97Q			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	257	Sushi 4.					integral to membrane		p.H257Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAGGCCGCGGGTGGCAGACGA	0.532000													10	24					0.0135373	0.0143273	0.013537	1	0
MYO7A	4647	broad.mit.edu	37	11	76872065	76872065	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:76872065C>G	ENST00000409709.3	+	12	1519	c.1247C>G	c.(1246-1248)gCa>gGa	p.A416G	MYO7A_ENST00000458637.2_Missense_Mutation_p.A416G|MYO7A_ENST00000409619.2_Missense_Mutation_p.A405G|MYO7A_ENST00000409893.1_Missense_Mutation_p.A416G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	416	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.A416G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGATCAACGCAGCAATTTAC	0.567000													9	17					0	0	0.006214	0	0
NEBL	10529	broad.mit.edu	37	10	21120447	21120447	+	Silent	SNP	A	A	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:21120447A>C	ENST00000377122.4	-	15	1911	c.1515T>G	c.(1513-1515)acT>acG	p.T505T	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	505					regulation of actin filament length		actin binding|structural constituent of muscle	p.T505T(1)		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						GGACATCAAGAGTGTCTGTGC	0.423000													27	52					0	0	0.006320	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303785	5303785	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:5303785C>A	ENST00000274181.7	+	20	3230	c.3092C>A	c.(3091-3093)aCc>aAc	p.T1031N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1031	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1031N(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTGTCTGCACCTCCGAGCCC	0.647000													10	17					3.86212e-05	4.42812e-05	0.008291	1	0
NTRK3	4916	broad.mit.edu	37	15	88476290	88476290	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:88476290G>A	ENST00000394480.1	-	16	2163	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	NTRK3_ENST00000542733.2_Silent_p.I516I|NTRK3_ENST00000355254.2_Silent_p.I614I|NTRK3_ENST00000360948.2_Silent_p.I614I|NTRK3_ENST00000357724.2_Silent_p.I606I|NTRK3_ENST00000558676.1_Silent_p.I606I|NTRK3_ENST00000557856.1_Silent_p.I606I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	614	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I614I(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAAAGACCATGATGAGGGGGT	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	22					0	0	0.006214	0	0
FFAR2	2867	broad.mit.edu	37	19	35940868	35940868	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:35940868C>A	ENST00000599180.1	+	2	332	c.252C>A	c.(250-252)ctC>ctA	p.L84L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L84L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	84						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.L84L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTGCGCCCTCACGAGTTTTG	0.617000													9	21					4.68919e-08	5.88361e-08	0.008291	1	0
NOTCH2	4853	broad.mit.edu	37	1	120510080	120510080	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:120510080C>G	ENST00000256646.2	-	8	1648	c.1429G>C	c.(1429-1431)Ggc>Cgc	p.G477R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	477	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.G477R(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTGAAGCCTCCAATCTTA	0.493000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				49	94					0	0	0.014410	0	0
TPH2	121278	broad.mit.edu	37	12	72388308	72388308	+	Missense_Mutation	SNP	T	T	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:72388308T>G	ENST00000333850.3	+	8	1172	c.1031T>G	c.(1030-1032)cTg>cGg	p.L344R		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	344					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.L344R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTGGCGTCTCTGGGAGCATCA	0.408000													25	71					0	0	0.003954	0	0
FAM135B	51059	broad.mit.edu	37	8	139163581	139163581	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:139163581G>T	ENST00000395297.1	-	13	3307	c.3137C>A	c.(3136-3138)tCt>tAt	p.S1046Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1046								p.S1046Y(2)		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)			CTTGGGCACAGATGAGAAAGG	0.522000										HNSCC(54;0.14)			11	21					6.40141e-05	7.23559e-05	0.010729	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232538195	232538195	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:232538195G>T	ENST00000366630.1	-	21	5323	c.4965C>A	c.(4963-4965)acC>acA	p.T1655T	SIPA1L2_ENST00000308942.4_Silent_p.T711T|SIPA1L2_ENST00000262861.4_Silent_p.T1655T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1655					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T1655T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGACTTTCCCGGTCAGTGGTG	0.403000													13	31					4.3838e-07	5.36545e-07	0.001855	1	0
ABL1	25	broad.mit.edu	37	9	133759671	133759671	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:133759671G>T	ENST00000318560.5	+	11	2375	c.1994G>T	c.(1993-1995)gGg>gTg	p.G665V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	665					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	p.G665L(1)		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)	CCCAGCAATGGGGCTGGGGTC	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	29					6.5536e-12	9.14296e-12	0.003080	1	0
ABL1	25	broad.mit.edu	37	9	133759670	133759670	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:133759670G>T	ENST00000318560.5	+	11	2374	c.1993G>T	c.(1993-1995)Ggg>Tgg	p.G665W		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	665					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	p.G665L(1)		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)	GCCCAGCAATGGGGCTGGGGT	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								8	29					6.5536e-12	9.14296e-12	0.003080	1	0
PSD2	84249	broad.mit.edu	37	5	139216787	139216787	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:139216787C>T	ENST00000274710.3	+	11	1834	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	543	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.Y543Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATTCTACGCAGTGCTCA	0.627000													21	62					0	0	0.002780	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266967	41266967	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:41266967G>T	ENST00000349496.5	+	5	918	c.638G>T	c.(637-639)tGt>tTt	p.C213F	CTNNB1_ENST00000396185.3_Missense_Mutation_p.C213F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C213F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C206F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C213F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	213					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.C213F(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACAGCTCGTTGTACCGCTGGG	0.473000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				6	23					0.00116845	0.00126344	0.001168	1	0
ACKR3	57007	broad.mit.edu	37	2	237489664	237489664	+	Missense_Mutation	SNP	G	G	T	rs143561143	byFrequency	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:237489664G>T	ENST00000272928.3	+	2	866	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.V186F(1)|p.V186I(1)									CCTGAAGACCGTCACGTCTGC	0.587000													24	69					4.16121e-05	4.75737e-05	0.002780	1	0
DHX16	8449	broad.mit.edu	37	6	30633459	30633459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:30633459G>A	ENST00000376442.3	-	5	913	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	240					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.R240*(1)		kidney(2)|ovary(2)	4						AGCTTCTCTCGCTCCCGCTTA	0.577000													20	72					0	0	0.002780	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	54					0	0	0.004672	0	0
CDX2	1045	broad.mit.edu	37	13	28537437	28537437	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:28537437G>C	ENST00000381020.7	-	3	2889	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	253	Poly-Gln.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q253E(1)		endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		tgctgctgctgttgctgctgc	0.547000			T	ETV6	AML								13	25					0	0	0.013537	0	0
FMO1	2326	broad.mit.edu	37	1	171254553	171254553	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:171254553C>A	ENST00000354841.4	+	8	1600	c.1469C>A	c.(1468-1470)aCc>aAc	p.T490N	FMO1_ENST00000402921.2_Missense_Mutation_p.T427N|FMO1_ENST00000367750.3_Missense_Mutation_p.T490N|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	490					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.T490N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCATCATGACCCAGTGGGAC	0.488000													21	60					2.37509e-13	3.49691e-13	0.010504	1	0
TRIM3	10612	broad.mit.edu	37	11	6478596	6478596	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:6478596T>A	ENST00000525074.1	-	5	1020	c.626A>T	c.(625-627)gAg>gTg	p.E209V	TRIM3_ENST00000345851.3_Missense_Mutation_p.E209V|TRIM3_ENST00000359518.3_Missense_Mutation_p.E209V|TRIM3_ENST00000537602.1_Missense_Mutation_p.E209V|TRIM3_ENST00000536344.1_Missense_Mutation_p.E90V|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	209					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.E209V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCTTGCTCCAGGTCCTC	0.602000													26	44					0	0	0.003954	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201758	21201758	+	Translation_Start_Site	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:21201758C>A	ENST00000361818.5	+	0	90				MAP2K3_ENST00000316920.6_De_novo_Start_OutOfFrame|MAP2K3_ENST00000342679.4_Missense_Mutation_p.S28Y	NM_002756.4	NP_002747.2	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S32Y(1)|p.S32F(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTACGGATATCCTGCATGTCC	0.557000													27	162					6.36457e-07	7.69535e-07	0.003954	1	0
DNAH2	146754	broad.mit.edu	37	17	7630539	7630539	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:7630539A>T	ENST00000572933.1	+	4	1788	c.328A>T	c.(328-330)Aca>Tca	p.T110S	DNAH2_ENST00000570791.1_Missense_Mutation_p.T110S|DNAH2_ENST00000389173.2_Missense_Mutation_p.T110S|DNAH2_ENST00000082259.3_Missense_Mutation_p.T110S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T110S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAGGACCCTACAGAATCCAT	0.547000													27	43					0	0	0.003954	0	0
BCKDHB	594	broad.mit.edu	37	6	80912907	80912907	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:80912907G>C	ENST00000320393.6	+	8	976	c.929G>C	c.(928-930)tGg>tCg	p.W310S	BCKDHB_ENST00000356489.5_Missense_Mutation_p.W310S|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	310					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.W310S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATAATACCTTGGGATGTGGAC	0.363000													25	54					0	0	0.004656	0	0
STAB1	23166	broad.mit.edu	37	3	52556665	52556665	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:52556665C>T	ENST00000321725.6	+	61	6781	c.6705C>T	c.(6703-6705)gcC>gcT	p.A2235A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2235	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A2235A(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACAGGGAGCCGTCCTTGCTT	0.622000													4	86					0	0	0.000602	0	0
GPR112	139378	broad.mit.edu	37	X	135474497	135474497	+	Missense_Mutation	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:135474497A>G	ENST00000394143.1	+	17	8309	c.8018A>G	c.(8017-8019)cAt>cGt	p.H2673R	GPR112_ENST00000412101.1_Missense_Mutation_p.H2468R|GPR112_ENST00000394141.1_Missense_Mutation_p.H2468R|GPR112_ENST00000370652.1_Missense_Mutation_p.H2673R|GPR112_ENST00000287534.4_Missense_Mutation_p.H2426R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H2673R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGCAGCATATTGGAGGA	0.368000													64	81					0	0	0.014410	0	0
CDH20	28316	broad.mit.edu	37	18	59157856	59157856	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:59157856G>T	ENST00000262717.4	+	2	468	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	CDH20_ENST00000538374.1_Missense_Mutation_p.G24W|CDH20_ENST00000536675.2_Missense_Mutation_p.G24W			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	24					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G24W(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTACTTCTGGGGGCTGATGGA	0.507000													42	64					3.61848e-18	6.06627e-18	0.007835	1	0
DPF3	8110	broad.mit.edu	37	14	73360773	73360773	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:73360773G>T	ENST00000541685.1	-	1	36	c.24C>A	c.(22-24)ccC>ccA	p.P8P	DPF3_ENST00000556509.1_Silent_p.P8P|DPF3_ENST00000546183.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	8					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.P8P(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACGCTTTCAGGGGGTTGTGAA	0.478000													28	47					4.59853e-10	6.11604e-10	0.005443	1	0
ROBO2	6092	broad.mit.edu	37	3	77600006	77600006	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:77600006G>T	ENST00000461745.1	+	8	1997	c.1097G>T	c.(1096-1098)aGt>aTt	p.S366I	ROBO2_ENST00000332191.8_Missense_Mutation_p.S366I|ROBO2_ENST00000487694.3_Missense_Mutation_p.S382I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	366	Ig-like C2-type 4.				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	p.S382I(1)|p.S366I(1)		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)		CAGCCCAACAGTAGATGCTCA	0.443000													20	46					3.62473e-10	4.85325e-10	0.012319	1	0
RAD18	56852	broad.mit.edu	37	3	8977689	8977689	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:8977689G>C	ENST00000264926.2	-	7	871	c.755C>G	c.(754-756)tCt>tGt	p.S252C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	252	SAP.				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	p.S252C(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ATCACGATCAGAGAGCAAATT	0.353000								Rad6 pathway					7	98					0	0	0.003080	0	0
ABCG5	64240	broad.mit.edu	37	2	44065004	44065004	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:44065004G>T	ENST00000260645.1	-	2	373	c.234C>A	c.(232-234)agC>agA	p.S78R	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	78	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.S78R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGATCTGCCCGCTCTCCACGT	0.502000													30	67					1.56442e-22	2.76196e-22	0.012213	1	0
DNAH7	56171	broad.mit.edu	37	2	196602802	196602802	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:196602802T>C	ENST00000312428.6	-	65	12018	c.11918A>G	c.(11917-11919)tAt>tGt	p.Y3973C	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.Y456C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3973					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Y3973C(1)		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						TGGAGCAACATAACTTGGCCG	0.433000													16	27					0	0	0.003163	0	0
LAMA1	284217	broad.mit.edu	37	18	7050841	7050841	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:7050841C>A	ENST00000389658.3	-	4	533	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	147	Laminin N-terminal.				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	p.S147I(1)		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)	CTGCCAGGGGCTGAACGTGGT	0.493000													18	30					1.02788e-11	1.42901e-11	0.004990	1	0
CACNA1C	775	broad.mit.edu	37	12	2786340	2786340	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:2786340C>A	ENST00000399655.1	+	40	5174	c.4909C>A	c.(4909-4911)Cag>Aag	p.Q1637K	CACNA1C_ENST00000399606.1_Missense_Mutation_p.Q1657K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Q1645K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Q1643K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Q1678K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Q1685K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Q1656K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Q1656K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Q1665K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Q1654K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Q1637K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Q1645K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Q1656K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Q1662K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1685					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.Q1715K(1)|p.Q1172K(1)|p.Q1685K(1)|p.Q1678K(1)|p.Q1637K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCAAAGAGCAGGGCCTTGT	0.602000													7	16					0.00198382	0.00213931	0.001984	1	0
RYR2	6262	broad.mit.edu	37	1	237777866	237777866	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:237777866C>A	ENST00000366574.2	+	37	5755	c.5438C>A	c.(5437-5439)aCt>aAt	p.T1813N	RYR2_ENST00000542537.1_Missense_Mutation_p.T1797N|RYR2_ENST00000360064.6_Missense_Mutation_p.T1811N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1813	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T1811N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGGAGGGACTACTGAATTC	0.478000													7	256					0.000274275	0.000303988	0.004482	1	0
XIRP2	129446	broad.mit.edu	37	2	168104598	168104598	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:168104598C>T	ENST00000409195.1	+	9	6785	c.6696C>T	c.(6694-6696)caC>caT	p.H2232H	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.H2232H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.H2010H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2057					actin cytoskeleton organization	cell junction	actin binding	p.H2232H(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAAGTCACAATACATTTA	0.363000													18	46					0	0	0.008871	0	0
TRIM46	80128	broad.mit.edu	37	1	155149759	155149759	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:155149759A>T	ENST00000392451.2	+	5	985	c.902A>T	c.(901-903)cAc>cTc	p.H301L	TRIM46_ENST00000368385.4_Missense_Mutation_p.H301L|TRIM46_ENST00000334634.4_Missense_Mutation_p.H301L|TRIM46_ENST00000368382.1_Missense_Mutation_p.H278L|TRIM46_ENST00000368383.3_Missense_Mutation_p.H301L|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.H175L|TRIM46_ENST00000543729.1_Missense_Mutation_p.H308L			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	301						intracellular	zinc ion binding	p.H301L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCGTGAGGCACACCGAGGTG	0.607000													30	67					0	0	0.008361	0	0
INHBB	3625	broad.mit.edu	37	2	121107309	121107309	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:121107309G>T	ENST00000295228.3	+	2	1129	c.1083G>T	c.(1081-1083)cgG>cgT	p.R361R		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	361					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R361R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACCGCATGCGGGGTCTGAACC	0.612000													4	28					0.00909568	0.00965206	0.009096	1	0
MTOR	2475	broad.mit.edu	37	1	11227545	11227545	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:11227545G>A	ENST00000361445.4	-	29	4359	c.4283C>T	c.(4282-4284)gCa>gTa	p.A1428V		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1428	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.A1428V(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCGGCCGCTGCCTCCGGCTG	0.473000													78	140					0	0	0.014410	0	0
LRFN2	57497	broad.mit.edu	37	6	40400281	40400281	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:40400281C>A	ENST00000338305.6	-	2	1114	c.572G>T	c.(571-573)gGc>gTc	p.G191V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	191						cell junction|integral to membrane|postsynaptic membrane		p.G191V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAAAGGTGCCCTCGGCGAT	0.622000													22	72					5.35356e-11	7.29034e-11	0.002780	1	0
RGMA	56963	broad.mit.edu	37	15	93588628	93588628	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:93588628C>A	ENST00000329082.7	-	4	1224	c.953G>T	c.(952-954)gGc>gTc	p.G318V	RGMA_ENST00000557301.1_Missense_Mutation_p.G326V|RGMA_ENST00000538818.1_Missense_Mutation_p.G209V|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000556658.1_Missense_Mutation_p.G209V|RGMA_ENST00000543599.1_Missense_Mutation_p.G302V|RGMA_ENST00000425933.2_Missense_Mutation_p.G302V|RGMA_ENST00000542321.2_Missense_Mutation_p.G302V	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	318					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		p.G318V(1)|p.G326V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GAGGGGGCAGCCCCGCAGGCA	0.667000													9	12					0.000274275	0.000303988	0.004482	1	0
NHSL2	340527	broad.mit.edu	37	X	71359234	71359234	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:71359234G>T	ENST00000373677.1	+	2	2000	c.738G>T	c.(736-738)tcG>tcT	p.S246S	NHSL2_ENST00000540800.1_Silent_p.S612S|NHSL2_ENST00000510661.1_Silent_p.S381S|NHSL2_ENST00000535692.1_Silent_p.S246S			F5H593	F5H593_HUMAN	NHS-like 2	612								p.S612S(1)|p.S243S(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GACATCACTCGTCCCACCCAG	0.527000													16	8					0.000422831	0.00046734	0.004007	1	0
OR51V1	283111	broad.mit.edu	37	11	5221039	5221039	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:5221039G>T	ENST00000321255.1	-	1	891	c.892C>A	c.(892-894)Ccc>Acc	p.P298T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P298T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGATGATGGGATTCATTAAA	0.428000													26	41					9.86323e-18	1.63296e-17	0.003954	1	0
CSF2RA	1438	broad.mit.edu	37	X	1407713	1407713	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:1407713C>T	ENST00000381524.3	+	6	591	c.405C>T	c.(403-405)aaC>aaT	p.N135N	CSF2RA_ENST00000501036.2_Silent_p.N2N|CSF2RA_ENST00000355805.2_Silent_p.N135N|CSF2RA_ENST00000381529.3_Silent_p.N135N|CSF2RA_ENST00000355432.3_Silent_p.N135N|CSF2RA_ENST00000361536.3_Silent_p.N135N|CSF2RA_ENST00000381500.1_Silent_p.N135N|CSF2RA_ENST00000432318.2_Silent_p.N135N|CSF2RA_ENST00000417535.2_Silent_p.N135N|CSF2RA_ENST00000381509.3_Silent_p.N135N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	135						extracellular region|integral to plasma membrane	cytokine receptor activity	p.N135N(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATTTAATGAACTGTACCTGGG	0.458000													85	139					0	0	0.014410	0	0
NDUFB6	4712	broad.mit.edu	37	9	32570991	32570991	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:32570991C>A	ENST00000379847.3	-	2	341	c.240G>T	c.(238-240)tgG>tgT	p.W80C	NDUFB6_ENST00000350021.2_Missense_Mutation_p.W80C	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	80					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.W80F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	AATGAATAATCCAGACAGGTA	0.318000													8	22					7.48243e-07	8.99244e-07	0.006214	1	0
STX17	55014	broad.mit.edu	37	9	102722207	102722207	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:102722207C>G	ENST00000259400.6	+	5	560	c.424C>G	c.(424-426)Cat>Gat	p.H142D	STX17_ENST00000525640.1_Missense_Mutation_p.H142D|STX17_ENST00000534052.1_Missense_Mutation_p.H142D|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	142					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	p.H142D(1)		endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGGAGCATTTCATACTACTGA	0.363000													16	90					0	0	0.004990	0	0
SLC12A2	6558	broad.mit.edu	37	5	127520534	127520534	+	Silent	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:127520534T>C	ENST00000262461.2	+	26	3678	c.3489T>C	c.(3487-3489)gcT>gcC	p.A1163A	SLC12A2_ENST00000343225.4_Silent_p.A1147A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1163					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.A1163A(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAAGCACAGCTAATATTATTG	0.289000													3	101					0	0	0.004672	0	0
MERTK	10461	broad.mit.edu	37	2	112687087	112687087	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:112687087A>T	ENST00000295408.4	+	2	709	c.452A>T	c.(451-453)gAt>gTt	p.D151V	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.D151V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	151	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D151V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TATCCAGATGATGAAGTTACA	0.323000													4	97					0	0	0.009096	0	0
HAO2	51179	broad.mit.edu	37	1	119925620	119925620	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:119925620C>A	ENST00000361035.4	+	4	536	c.253C>A	c.(253-255)Cct>Act	p.P85T	HAO2_ENST00000325945.3_Missense_Mutation_p.P72T	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	72	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.P72T(1)|p.P72S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATCAGTGCCCCTATTTGTAT	0.557000													9	22					2.17888e-05	2.51264e-05	0.006214	1	0
HECTD1	25831	broad.mit.edu	37	14	31598245	31598245	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:31598245G>A	ENST00000399332.1	-	25	4820	c.4332C>T	c.(4330-4332)tcC>tcT	p.S1444S	HECTD1_ENST00000553700.1_Silent_p.S1444S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1444	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.S1444S(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGCTTGCACTGGAAGATGACC	0.458000													42	70					0	0	0.010771	0	0
SOX8	30812	broad.mit.edu	37	16	1033796	1033796	+	Missense_Mutation	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:1033796A>G	ENST00000293894.3	+	2	606	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	164					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		p.K164R(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCACAAGAAGGACCACCCC	0.682000													9	29					0	0	0.013537	0	0
LONRF3	79836	broad.mit.edu	37	X	118109472	118109472	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:118109472G>T	ENST00000365713.2	+	1	892	c.729G>T	c.(727-729)gcG>gcT	p.A243A	LONRF3_ENST00000304778.7_Silent_p.A243A|LONRF3_ENST00000371628.3_Silent_p.A243A			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	243					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.A243A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCGCGAGCGTCGCAACTCC	0.682000													7	9					2.0095e-06	2.3792e-06	0.001984	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232601023	232601023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:232601023C>A	ENST00000366630.1	-	8	2741	c.2383G>T	c.(2383-2385)Gaa>Taa	p.E795*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E795*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	795	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E795*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGAAACTTTTCTGATTTATGG	0.478000													36	137					9.73076e-26	1.74106e-25	0.006999	1	0
OPN4	94233	broad.mit.edu	37	10	88419155	88419155	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:88419155T>C	ENST00000372071.2	+	6	990	c.763T>C	c.(763-765)Ttc>Ctc	p.F255L	OPN4_ENST00000241891.5_Missense_Mutation_p.F244L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	244					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.F255L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGCTTCGTGTTCTTCCTCCC	0.587000													19	44					0	0	0.010504	0	0
CFB	629	broad.mit.edu	37	6	31901713	31901713	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:31901713G>T	ENST00000456570.1	+	4	555	c.500G>T	c.(499-501)gGg>gTg	p.G167V	C2_ENST00000299367.5_Missense_Mutation_p.G229V|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.G229V|C2_ENST00000452323.2_Missense_Mutation_p.G106V|C2_ENST00000442278.2_Missense_Mutation_p.G97V|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.G167V			P00751	CFAB_HUMAN	complement factor B	236	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.G229V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CACATGCTTGGGGCCACCAAT	0.602000													19	37					1.50039e-11	2.07867e-11	0.012319	1	0
LTBP1	4052	broad.mit.edu	37	2	33411922	33411922	+	Splice_Site	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:33411922G>A	ENST00000404816.2	+	6	1554		c.e6-1		LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCCCTTTTAGTAATTTGCCA	0.418000													10	21					0	0	0.008291	0	0
HECW2	57520	broad.mit.edu	37	2	197183409	197183409	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:197183409C>A	ENST00000260983.2	-	9	2387	c.2205G>T	c.(2203-2205)gaG>gaT	p.E735D	HECW2_ENST00000409111.1_Missense_Mutation_p.E379D	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E735D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTGCCAGACCTCCCCCAGCT	0.652000													15	32					9.16793e-09	1.17621e-08	0.004990	1	0
AGK	55750	broad.mit.edu	37	7	141352708	141352708	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:141352708C>G	ENST00000355413.4	+	16	1513	c.1253C>G	c.(1252-1254)aCa>aGa	p.T418R	RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Missense_Mutation_p.T390R	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	418					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.T418R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAGATGCTCACAAGCCCCACC	0.542000													22	31					0	0	0.012319	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131785625	131785625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:131785625G>T	ENST00000392953.3	+	5	1054	c.535G>T	c.(535-537)Gga>Tga	p.G179*	ARHGEF4_ENST00000326016.5_Nonsense_Mutation_p.G179*|ARHGEF4_ENST00000355771.3_Nonsense_Mutation_p.G108*|ARHGEF4_ENST00000409303.1_Nonsense_Mutation_p.G179*|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Nonsense_Mutation_p.G179*	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	179					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.G179L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGCCACCCTGGAGGGGGTGG	0.622000													9	15					6.40141e-05	7.23559e-05	0.010729	1	0
VWCE	220001	broad.mit.edu	37	11	61053874	61053874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:61053874G>T	ENST00000335613.5	-	5	839	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	151	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding	p.C151*(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGTGGCCCTCGCAGGAGGAGG	0.552000													31	66					1.08312e-15	1.67506e-15	0.009535	1	0
MYH2	4620	broad.mit.edu	37	17	10432732	10432732	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:10432732C>G	ENST00000245503.5	-	25	3568	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1062Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1062					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1062Q(1)		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						AAGTCACCCTCAAGTTTCCTC	0.378000													33	51					0	0	0.012213	0	0
LCTL	197021	broad.mit.edu	37	15	66845330	66845330	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:66845330A>T	ENST00000341509.5	-	9	1320	c.1189T>A	c.(1189-1191)Ttt>Att	p.F397I	LCTL_ENST00000537670.1_Missense_Mutation_p.F224I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	397					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.F397I(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTGAGCAAAGTTAAGGAGC	0.423000													30	82					0	0	0.013726	0	0
PSKH2	85481	broad.mit.edu	37	8	87060875	87060875	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:87060875G>T	ENST00000276616.2	-	3	1048	c.974C>A	c.(973-975)gCa>gAa	p.A325E		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	325							ATP binding|protein serine/threonine kinase activity	p.A325E(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGAAGACCCTGCAGCCATGGT	0.542000													33	60					6.19805e-25	1.10403e-24	0.005524	1	0
ABCA8	10351	broad.mit.edu	37	17	66933232	66933232	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:66933232T>A	ENST00000269080.2	-	4	463	c.326A>T	c.(325-327)gAt>gTt	p.D109V	ABCA8_ENST00000586539.1_Missense_Mutation_p.D109V|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	109						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D109V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACTTTCCTCATCTGGCAGTCC	0.338000													8	47					0	0	0.004482	0	0
CETN1	1068	broad.mit.edu	37	18	580598	580598	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:580598C>A	ENST00000327228.3	+	1	232	c.190C>A	c.(190-192)Ccc>Acc	p.P64T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	64	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.P64T(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGCTTCGAACCCAGGAAGGA	0.552000													9	21					0.000274275	0.000303988	0.004482	1	0
NECAB1	64168	broad.mit.edu	37	8	91937844	91937844	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:91937844C>T	ENST00000417640.2	+	7	913	c.576C>T	c.(574-576)agC>agT	p.S192S		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	192					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.S192S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GACACAACAGCTTCTCCCCAA	0.458000													10	17					0	0	0.010729	0	0
ZNF512B	57473	broad.mit.edu	37	20	62593643	62593643	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:62593643C>A	ENST00000450537.1	-	14	2308	c.2248G>T	c.(2248-2250)Gtc>Ttc	p.V750F	ZNF512B_ENST00000369888.1_Missense_Mutation_p.V750F|ZNF512B_ENST00000217130.3_Missense_Mutation_p.V750F			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V750F(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGACAGTTGACGTGGCCTTTC	0.622000													25	36					1.16021e-09	1.5278e-09	0.007291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768318	77768318	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:77768318C>A	ENST00000521891.2	+	10	9609	c.9161C>A	c.(9160-9162)aCg>aAg	p.T3054K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3009K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3009K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3028K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3009	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T3038K(1)		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)			GCTCCGACCACGGTTCGGCAG	0.507000										HNSCC(33;0.089)			37	72					5.04308e-16	7.922e-16	0.006230	1	0
OR1L3	26735	broad.mit.edu	37	9	125437681	125437681	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:125437681C>T	ENST00000304820.2	+	1	367	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AGAAAAAGACCATTTCCTATG	0.408000													49	183					0	0	0.014410	0	0
PSG6	5675	broad.mit.edu	37	19	43411928	43411928	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:43411928T>A	ENST00000187910.2	-	4	850	c.785A>T	c.(784-786)gAa>gTa	p.E262V	PSG6_ENST00000292125.2_Missense_Mutation_p.E262V|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.E262V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTCTTAGGTTCACAGGTGAA	0.483000													100	177					0	0	0.014410	0	0
SPATA6	54558	broad.mit.edu	37	1	48865286	48865286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:48865286C>A	ENST00000371847.3	-	7	681	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E101*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E173*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	173					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.E173*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGTGATTTTTCAACTGGAGCC	0.303000													23	50					1.64293e-13	2.43692e-13	0.003330	1	0
CHRNB3	1142	broad.mit.edu	37	8	42586930	42586930	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:42586930C>T	ENST00000289957.2	+	5	608	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	160					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.F160F(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCACGTTTTTCCCGTTCGACC	0.493000													6	19					0	0	0.001984	0	0
PTPRT	11122	broad.mit.edu	37	20	40944583	40944583	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:40944583G>T	ENST00000373198.3	-	12	2154	c.1919C>A	c.(1918-1920)gCt>gAt	p.A640D	PTPRT_ENST00000373201.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373187.1_Missense_Mutation_p.A640D|PTPRT_ENST00000356100.2_Missense_Mutation_p.A640D|PTPRT_ENST00000373184.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373190.1_Missense_Mutation_p.A640D|PTPRT_ENST00000373193.3_Missense_Mutation_p.A640D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	640	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A640D(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AATAATGTCAGCTGCCCTCCG	0.512000													24	58					3.28513e-13	4.78382e-13	0.003954	1	0
TDRD3	81550	broad.mit.edu	37	13	61102923	61102923	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:61102923C>T	ENST00000196169.3	+	11	2073	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	TDRD3_ENST00000377881.2_Missense_Mutation_p.P429S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P429S|TDRD3_ENST00000535286.1_Missense_Mutation_p.P522S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	429					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.P429S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATCCACTTCCTCAAGGATC	0.343000													5	76					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92531124	92531124	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:92531124C>A	ENST00000298047.6	+	9	4962	c.4945C>A	c.(4945-4947)Ccg>Acg	p.P1649T	FAT3_ENST00000525166.1_Missense_Mutation_p.P1499T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1649T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1649	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P1649T(2)		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)				TCAGGGATCCCCGCCAATGTC	0.473000										TCGA Ovarian(4;0.039)			40	46					1.96642e-18	3.32458e-18	0.006999	1	0
ZBED6CL	113763	broad.mit.edu	37	7	150027823	150027823	+	Silent	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:150027823T>C	ENST00000343855.4	+	1	886	c.330T>C	c.(328-330)atT>atC	p.I110I	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like									p.I110I(1)									TGAAGGAGATTAGAGTGTCTG	0.582000													24	47					0	0	0.002780	0	0
FGA	2243	broad.mit.edu	37	4	155507713	155507713	+	Missense_Mutation	SNP	T	T	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:155507713T>G	ENST00000302053.3	-	5	946	c.868A>C	c.(868-870)Agc>Cgc	p.S290R	FGA_ENST00000403106.3_Missense_Mutation_p.S290R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	290					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S290R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGCACTGCTAGGGTTCCTG	0.552000													39	83					0	0	0.006999	0	0
MSGN1	343930	broad.mit.edu	37	2	17997987	17997987	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:17997987C>T	ENST00000281047.3	+	1	225	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	68					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P68S(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTGGGCTGCCCTGTGAGCA	0.617000													31	33					0	0	0.006999	0	0
RIOK2	55781	broad.mit.edu	37	5	96503657	96503657	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:96503657C>A	ENST00000283109.3	-	8	979	c.911G>T	c.(910-912)gGc>gTc	p.G304V	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.G304V	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	304	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.G304V(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTGTGTAGCCACTGGCAGA	0.378000													29	50					2.65835e-16	4.22582e-16	0.007291	1	0
DCK	1633	broad.mit.edu	37	4	71889280	71889280	+	Missense_Mutation	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:71889280A>G	ENST00000286648.5	+	4	803	c.406A>G	c.(406-408)Att>Gtt	p.I136V	DCK_ENST00000504730.1_Missense_Mutation_p.I136V|DCK_ENST00000504952.1_Missense_Mutation_p.I136V	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	136					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	p.I136V(1)		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)	TTTTAGGTATATTTTTGCATC	0.323000													16	26					0	0	0.004007	0	0
CCDC108	255101	broad.mit.edu	37	2	219896377	219896377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:219896377C>A	ENST00000341552.5	-	7	732	c.649G>T	c.(649-651)Gag>Tag	p.E217*	CCDC108_ENST00000453220.1_Nonsense_Mutation_p.E217*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.E217*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.E152*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.E206*	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	217						integral to membrane	structural molecule activity	p.E217*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATGTACTCCTTCTGCAGT	0.637000													29	59					1.80694e-10	2.45228e-10	0.009535	1	0
ALPK1	80216	broad.mit.edu	37	4	113351658	113351658	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:113351658G>T	ENST00000458497.1	+	11	1234	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.E319*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.E241*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	319							ATP binding|protein serine/threonine kinase activity	p.E319*(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTGTCCTCCAGAATTGAAAAA	0.408000													33	63					6.53348e-20	1.11882e-19	0.003755	1	0
NBEAL2	23218	broad.mit.edu	37	3	47032756	47032756	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:47032756C>T	ENST00000450053.3	+	7	783	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	NBEAL2_ENST00000292309.5_Missense_Mutation_p.L202F|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	202							binding	p.L202F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGTTACGTCTCATCCACCT	0.572000													4	8					0	0	0.000602	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617359	111617359	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:111617359C>A	ENST00000374667.3	-	1	1880	c.852G>T	c.(850-852)ccG>ccT	p.P284P		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	284						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.P284P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTTGCCGTCCGGGAGCTCGT	0.642000													35	76					2.42023e-17	3.9255e-17	0.003271	1	0
BAGE2	85319	broad.mit.edu	37	21	11038727	11038727	+	RNA	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr21:11038727C>A	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATCACCCTACCTGTTTGGAC	0.373000													6	124					7.48243e-07	8.99244e-07	0.006214	1	0
OR5F1	338674	broad.mit.edu	37	11	55761971	55761971	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:55761971C>A	ENST00000278409.1	-	1	130	c.131G>T	c.(130-132)gGg>gTg	p.G44V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G44V(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GAGGATCATCCCGAGATTTCC	0.428000													19	36					1.00905e-13	1.50228e-13	0.008871	1	0
COL27A1	85301	broad.mit.edu	37	9	116931081	116931081	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:116931081G>T	ENST00000356083.3	+	3	1637	c.1246G>T	c.(1246-1248)Gcc>Tcc	p.A416S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	416	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.A416S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGTTCCTGCCAGAGTCTC	0.607000													131	114					9.66843e-69	1.837e-68	0.014410	1	0
CCDC141	285025	broad.mit.edu	37	2	179702359	179702359	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:179702359A>T	ENST00000420890.2	-	23	3704	c.3587T>A	c.(3586-3588)cTg>cAg	p.L1196Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.L621Q|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	621							protein binding	p.L1196Q(1)|p.L621Q(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTCTTCAGGCAGGAGCAGGTC	0.557000													33	56					0	0	0.013726	0	0
IPO13	9670	broad.mit.edu	37	1	44415697	44415697	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:44415697G>C	ENST00000372343.3	+	2	1355	c.693G>C	c.(691-693)caG>caC	p.Q231H		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	231					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q231P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTGGGTGCAGCTGGAGGTGC	0.617000													7	13					0	0	0.001984	0	0
MYLK	4638	broad.mit.edu	37	3	123337559	123337559	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:123337559G>T	ENST00000360772.3	-	33	5652	c.5274C>A	c.(5272-5274)ccC>ccA	p.P1758P	MYLK_ENST00000418370.2_Silent_p.P49P|MYLK_ENST00000583087.1_Silent_p.P49P|MYLK_ENST00000475616.1_Silent_p.P1809P|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Silent_p.P609P|MYLK_ENST00000346322.5_Silent_p.P1740P|MYLK_ENST00000359169.1_Silent_p.P1758P|MYLK_ENST00000578202.1_Silent_p.P48P|MYLK_ENST00000360304.3_Silent_p.P1809P|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1809	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P1809P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TAGAGAAATAGGGTTTTACAT	0.438000													27	57					1.17739e-12	1.69596e-12	0.005443	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140773331	140773331	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:140773331G>T	ENST00000398604.2	+	1	951	c.951G>T	c.(949-951)atG>atT	p.M317I	PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1												p.M317I(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTATGAAATGGAAATACAAG	0.363000													38	107					1.15505e-17	1.9044e-17	0.009718	1	0
PHLDA1	22822	broad.mit.edu	37	12	76425198	76425198	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:76425198G>A	ENST00000266671.5	-	1	2514	c.324C>T	c.(322-324)cgC>cgT	p.R108R	PHLDA1_ENST00000602540.1_5'UTR			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	108					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R108R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CCTCGCCCCAGCGGCTCCCAC	0.766000													3	1					0	0	0.004672	0	0
ZNF229	7772	broad.mit.edu	37	19	44932853	44932853	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:44932853G>T	ENST00000291187.4	-	6	2407	c.2085C>A	c.(2083-2085)acC>acA	p.T695T	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.T701T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T701T(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACCTCTGGTGGGTGCGAAGAT	0.483000													24	71					5.35356e-11	7.29034e-11	0.002780	1	0
FAM83D	81610	broad.mit.edu	37	20	37580963	37580963	+	Silent	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:37580963T>C	ENST00000217429.4	+	4	1689	c.1648T>C	c.(1648-1650)Ttg>Ctg	p.L550L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	520					cell division|mitosis	cytoplasm|spindle pole		p.L550L(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GGAACTGTACTTGAGTGACTC	0.532000													19	36					0	0	0.006122	0	0
ZEB2	9839	broad.mit.edu	37	2	145274906	145274906	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:145274906C>A	ENST00000558170.2	-	2	1196	c.12G>T	c.(10-12)ccG>ccT	p.P4P	ZEB2_ENST00000470879.1_Silent_p.P4P|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000465070.1_Silent_p.P4P|ZEB2_ENST00000409487.3_Silent_p.P4P|ZEB2_ENST00000539609.3_Silent_p.P4P|ZEB2_ENST00000462355.1_Silent_p.P4P|ZEB2_ENST00000303660.4_Silent_p.P4P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	4						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P4P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGCCATGATCGGCTGCTTCA	0.577000													20	35					2.37509e-13	3.49691e-13	0.010504	1	0
PDYN	5173	broad.mit.edu	37	20	1961380	1961380	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:1961380C>A	ENST00000217305.2	-	4	579	c.354G>T	c.(352-354)aaG>aaT	p.K118N	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.K118N|PDYN_ENST00000539905.1_Missense_Mutation_p.K118N	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	118					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.K118_E119>N*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGTGTTCTCCTTTGTTGAGA	0.552000													37	70					1.60099e-16	2.55517e-16	0.004878	1	0
MMP21	118856	broad.mit.edu	37	10	127458921	127458921	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:127458921C>T	ENST00000368808.3	-	5	1218	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	407	Hemopexin-like 2.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E407K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAATAACGTTCATCTCTTTTC	0.438000													57	101					0	0	0.014410	0	0
APAF1	317	broad.mit.edu	37	12	99053024	99053024	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:99053024C>A	ENST00000357310.1	+	5	1190	c.613C>A	c.(613-615)Cgg>Agg	p.R205R	APAF1_ENST00000551964.1_Silent_p.R205R|APAF1_ENST00000547045.1_Silent_p.R205R|APAF1_ENST00000359972.2_Silent_p.R194R|APAF1_ENST00000550527.1_Silent_p.R194R|APAF1_ENST00000339433.3_Silent_p.R205R|APAF1_ENST00000333991.1_Silent_p.R205R|APAF1_ENST00000549007.1_Silent_p.R205R|APAF1_ENST00000552268.1_Silent_p.R205R	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	205	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.R205R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTTTGCACACGGTTGGATCA	0.473000													41	82					2.37825e-27	4.29376e-27	0.010771	1	0
SDF4	51150	broad.mit.edu	37	1	1154154	1154154	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:1154154T>C	ENST00000263741.7	-	5	1023	c.731A>G	c.(730-732)gAc>gGc	p.D244G	SDF4_ENST00000360001.6_Missense_Mutation_p.D244G	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	244	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.D244G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCACCCAGGTCCCGGACGAT	0.692000													11	80					0	0	0.008291	0	0
OR10K2	391107	broad.mit.edu	37	1	158390486	158390486	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:158390486G>C	ENST00000314902.2	-	1	170	c.171C>G	c.(169-171)atC>atG	p.I57M		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I57M(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTACATGGGGATATGAAGGG	0.488000													34	102					0	0	0.004289	0	0
ATG14	22863	broad.mit.edu	37	14	55836410	55836410	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:55836410C>T	ENST00000247178.5	-	10	1441	c.1406G>A	c.(1405-1407)aGt>aAt	p.S469N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	469					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	p.S469N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCCACCTGCACTGCTGCTCGC	0.552000													37	58					0	0	0.004289	0	0
MUSK	4593	broad.mit.edu	37	9	113530298	113530298	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:113530298G>A	ENST00000416899.2	+	8	1245	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	MUSK_ENST00000189978.5_Silent_p.L373L|MUSK_ENST00000374448.4_Silent_p.L373L			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	373	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L373L(1)		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						CTGAGGCTTTGTTGTGTAACC	0.507000													53	71					0	0	0.014410	0	0
REG1B	5968	broad.mit.edu	37	2	79314024	79314024	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:79314024G>T	ENST00000305089.3	-	3	177	c.97C>A	c.(97-99)Cga>Aga	p.R33R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	33					cell proliferation	extracellular region	sugar binding	p.R33*(1)|p.R33R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CAGCTGATTCGGGGATTAGGC	0.493000													62	123					3.31162e-33	6.11729e-33	0.014410	1	0
ACTR3B	57180	broad.mit.edu	37	7	152550643	152550643	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:152550643G>T	ENST00000256001.8	+	11	1276	c.1142G>T	c.(1141-1143)gGc>gTc	p.G381V	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.G293V|ACTR3B_ENST00000397282.2_Missense_Mutation_p.G293V	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	381					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	p.G381V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGGTTCGGAGGCTCCATGCTG	0.572000													6	16					1.06961e-07	1.33785e-07	0.003080	1	0
PLIN4	729359	broad.mit.edu	37	19	4504673	4504673	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:4504673G>T	ENST00000301286.3	-	6	3871	c.3872C>A	c.(3871-3873)gCg>gAg	p.A1291E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1291						lipid particle|plasma membrane		p.A1219E(1)|p.A1291E(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCTGTGCCGCGCCCGCCCCAC	0.701000													5	10					3.59834e-05	4.13757e-05	0.001168	1	0
AHCTF1	25909	broad.mit.edu	37	1	247014498	247014498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:247014498C>A	ENST00000366508.1	-	33	5051	c.4915G>T	c.(4915-4917)Gag>Tag	p.E1639*	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E1613*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.E1604*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1604	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E1604*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCACCTGGCTCAACTTCTCCT	0.408000													21	83					3.08376e-08	3.91854e-08	0.003330	1	0
SLC44A5	204962	broad.mit.edu	37	1	75685529	75685529	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:75685529G>C	ENST00000370855.5	-	15	1247	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.F248L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F378L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	378						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.F378L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAGCAAAATGAAAGTTAAAG	0.363000													7	16					0	0	0.004482	0	0
FPR1	2357	broad.mit.edu	37	19	52249723	52249723	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:52249723G>T	ENST00000595042.1	-	3	666	c.525C>A	c.(523-525)gcC>gcA	p.A175A	FPR1_ENST00000304748.4_Silent_p.A175A	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	175					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A175A(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TAAAAGTGCAGGCTACTGTCC	0.507000													18	48					1.56452e-12	2.22945e-12	0.007413	1	0
BUD13	84811	broad.mit.edu	37	11	116640920	116640920	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:116640920A>T	ENST00000260210.4	-	2	185	c.162T>A	c.(160-162)gaT>gaA	p.D54E	BUD13_ENST00000375445.3_Missense_Mutation_p.D54E	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	54								p.D54E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGCTCACATCATCATCCACAA	0.378000													21	47					0	0	0.014323	0	0
GFRA1	2674	broad.mit.edu	37	10	117849335	117849335	+	Missense_Mutation	SNP	G	G	A	rs147029195		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:117849335G>A	ENST00000439649.3	-	8	1466	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	GFRA1_ENST00000544592.1_Missense_Mutation_p.R251W|GFRA1_ENST00000369236.1_Missense_Mutation_p.R367W|GFRA1_ENST00000355422.6_Missense_Mutation_p.R372W	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	372	Poly-Thr.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.R367W(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTCTTAACCCGGAGGGCAGTG	0.542000													5	60					0	0	0.000602	0	0
CPZ	8532	broad.mit.edu	37	4	8608492	8608492	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:8608492G>T	ENST00000382480.2	+	6	1324	c.524G>T	c.(523-525)gGg>gTg	p.G175V	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.G312V|CPZ_ENST00000315782.6_Missense_Mutation_p.G301V	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	312					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.G312V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGACGAGCGGGAGGCAGAAC	0.652000													19	54					1.56452e-12	2.22945e-12	0.007413	1	0
PADI1	29943	broad.mit.edu	37	1	17552330	17552330	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:17552330G>T	ENST00000375471.4	+	5	525	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	145					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.G145C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGCCCTGAGGGCTATGGGGC	0.602000													33	83					3.03874e-20	5.24873e-20	0.003271	1	0
DACH2	117154	broad.mit.edu	37	X	85969642	85969642	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:85969642C>A	ENST00000373131.1	+	5	1147	c.984C>A	c.(982-984)aaC>aaA	p.N328K	DACH2_ENST00000373125.4_Missense_Mutation_p.N341K|DACH2_ENST00000510272.1_Missense_Mutation_p.N122K|DACH2_ENST00000508860.1_Missense_Mutation_p.N174K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.N341K(1)|p.N328K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATCAGATGAACCATCTCAATA	0.453000													47	74					3.05275e-18	5.13943e-18	0.013114	1	0
MTL5	9633	broad.mit.edu	37	11	68517945	68517945	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:68517945G>T	ENST00000443940.2	-	2	270	c.184C>A	c.(184-186)Ccc>Acc	p.P62T	MTL5_ENST00000544963.1_Missense_Mutation_p.P62T|MTL5_ENST00000255087.5_Missense_Mutation_p.P62T			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	62					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.P62T(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGCAGGACGGGTTCCTTGGGG	0.687000													6	8					5.9392e-07	7.20286e-07	0.001168	1	0
TBCE	6905	broad.mit.edu	37	1	235605137	235605137	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:235605137G>T	ENST00000543662.1	+	15	1538	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S	TBCE_ENST00000366601.3_Missense_Mutation_p.A427S|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.A427S			Q15813	TBCE_HUMAN	tubulin folding cofactor E	427					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.A427S(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGAATATGGTGCACCTGAAGA	0.338000													11	54					0.00244969	0.00263458	0.002450	1	0
PBX4	80714	broad.mit.edu	37	19	19681572	19681572	+	Silent	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:19681572C>G	ENST00000251203.8	-	3	550	c.264G>C	c.(262-264)ctG>ctC	p.L88L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	88							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L88L(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCTCAGCCAGCAGCATGTTAT	0.582000													18	30					0	0	0.006122	0	0
FSTL5	56884	broad.mit.edu	37	4	162402195	162402195	+	Missense_Mutation	SNP	C	C	A	rs143585706		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:162402195C>A	ENST00000306100.5	-	13	2021	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	FSTL5_ENST00000427802.2_Missense_Mutation_p.V519L|FSTL5_ENST00000379164.4_Missense_Mutation_p.V528L|FSTL5_ENST00000536695.1_Missense_Mutation_p.V528L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	529						extracellular region	calcium ion binding	p.V529L(1)		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)		TGGGACTGCACATCAACAATA	0.328000													24	55					2.89027e-11	3.99037e-11	0.014323	1	0
CSMD1	64478	broad.mit.edu	37	8	3165998	3165998	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:3165998G>T	ENST00000602557.1	-	25	4217	c.3662C>A	c.(3661-3663)cCg>cAg	p.P1221Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1221Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1221Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1221Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1221	Sushi 7.					integral to membrane		p.P949Q(1)|p.P1220Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGATGCCCGGATCCTCACA	0.483000													9	13					0.00621372	0.00662907	0.006214	1	0
MISP	126353	broad.mit.edu	37	19	763550	763550	+	Missense_Mutation	SNP	G	G	C	rs143887834	byFrequency	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:763550G>C	ENST00000215582.6	+	5	2103	c.2000G>C	c.(1999-2001)cGc>cCc	p.R667P		NM_173481.2	NP_775752.1			mitotic spindle positioning									p.R667P(1)									ATGGCAGAGCGCTGGGAATCC	0.632000													4	27					0	0	0.009096	0	0
ABAT	18	broad.mit.edu	37	16	8844366	8844366	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:8844366C>G	ENST00000396600.2	+	5	1224	c.286C>G	c.(286-288)Ctt>Gtt	p.L96V	ABAT_ENST00000268251.8_Missense_Mutation_p.L96V|ABAT_ENST00000567812.1_Missense_Mutation_p.L111V|ABAT_ENST00000425191.2_Missense_Mutation_p.L96V|ABAT_ENST00000569156.1_Missense_Mutation_p.L96V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	96					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.L96V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AATGCTGGATCTTTATTCCCA	0.468000													5	242					0	0	0.000602	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501382	6501382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:6501382G>T	ENST00000601152.1	-	3	242	c.117C>A	c.(115-117)tgC>tgA	p.C39*	TUBB4A_ENST00000596926.1_Missense_Mutation_p.L65M|TUBB4A_ENST00000598006.1_Nonsense_Mutation_p.C50*|TUBB4A_ENST00000540257.1_Missense_Mutation_p.L65M|TUBB4A_ENST00000264071.2_Missense_Mutation_p.L65M			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L65M(1)									AGGTCCACCAGCACCGCTCTG	0.607000													10	21					7.03913e-09	9.06004e-09	0.013537	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070511	114070511	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:114070511G>A	ENST00000462705.1	-	11	1016	c.195C>T	c.(193-195)agC>agT	p.S65S	ZBTB20_ENST00000357258.3_Silent_p.S65S|ZBTB20_ENST00000481632.1_Silent_p.S65S|ZBTB20_ENST00000464560.1_Silent_p.S65S|ZBTB20_ENST00000471418.1_Silent_p.S65S|ZBTB20_ENST00000474710.1_Silent_p.S138S|ZBTB20_ENST00000393785.2_Silent_p.S65S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S65S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCTCGATGTCGCTGTAGCCAA	0.612000													3	23					0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38775422	38775422	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:38775422T>A	ENST00000359357.3	+	22	2790	c.2536T>A	c.(2536-2538)Tta>Ata	p.L846I	DNAH8_ENST00000441566.1_Missense_Mutation_p.L846I|DNAH8_ENST00000449981.2_Missense_Mutation_p.L1063I					dynein, axonemal, heavy chain 8									p.L846I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTCATCAATTACTAGACAG	0.348000													20	70					0	0	0.012319	0	0
TIMD4	91937	broad.mit.edu	37	5	156353276	156353276	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:156353276G>T	ENST00000274532.2	-	6	948	c.892C>A	c.(892-894)Cag>Aag	p.Q298K	TIMD4_ENST00000406964.1_5'UTR|TIMD4_ENST00000407087.3_Missense_Mutation_p.Q270K	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	298						integral to membrane		p.Q298K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTTTACCTGTCCTGTTTTT	0.393000													20	42					4.35082e-09	5.63629e-09	0.010504	1	0
OR2G6	391211	broad.mit.edu	37	1	248685105	248685105	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:248685105C>A	ENST00000343414.4	+	1	190	c.158C>A	c.(157-159)tCc>tAc	p.S53Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53Y(2)|p.S53*(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTGGACTCCAGACTCCAC	0.483000													54	48					9.59835e-30	1.74874e-29	0.014410	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724542	140724542	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:140724542C>G	ENST00000253812.6	+	1	942	c.942C>G	c.(940-942)ttC>ttG	p.F314L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.F314L(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCATGTTCTATGAAATTA	0.373000													3	52					0	0	0.004672	0	0
PAX2	5076	broad.mit.edu	37	10	102509565	102509565	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:102509565G>C	ENST00000370296.2	+	2	656	c.106G>C	c.(106-108)Gtg>Ctg	p.V36L	PAX2_ENST00000428433.1_Missense_Mutation_p.V36L|PAX2_ENST00000361791.3_Missense_Mutation_p.V36L|PAX2_ENST00000556085.1_Missense_Mutation_p.V35L|PAX2_ENST00000355243.3_Missense_Mutation_p.V36L|PAX2_ENST00000553492.1_Intron			Q02962	PAX2_HUMAN	paired box 2	36	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.V36L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCTACCCGACGTGGTGAGGCA	0.642000													8	36					0	0	0.010729	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500060	48500060	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:48500060C>T	ENST00000396577.3	+	2	359	c.144C>T	c.(142-144)acC>acT	p.T48T	SLC12A1_ENST00000330289.6_Silent_p.T48T|SLC12A1_ENST00000561031.1_Silent_p.T48T|SLC12A1_ENST00000558405.1_Silent_p.T48T|SLC12A1_ENST00000380993.3_Silent_p.T48T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	48					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.T48T(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGAAGAAACCTCTTTTGGGG	0.428000													12	32					0	0	0.013537	0	0
SCN5A	6331	broad.mit.edu	37	3	38622838	38622838	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:38622838G>A	ENST00000413689.1	-	17	3005	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L	SCN5A_ENST00000414099.2_Silent_p.L938L|SCN5A_ENST00000450102.2_Silent_p.L938L|SCN5A_ENST00000455624.2_Silent_p.L938L|SCN5A_ENST00000451551.2_Silent_p.L938L|SCN5A_ENST00000449557.2_Silent_p.L938L|SCN5A_ENST00000443581.1_Silent_p.L938L|SCN5A_ENST00000423572.2_Silent_p.L938L|SCN5A_ENST00000333535.4_Silent_p.L938L|SCN5A_ENST00000425664.1_Silent_p.L938L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	938					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.L938L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGCTGAGCAGCAAGGCCAGG	0.587000													4	15					0	0	0.000602	0	0
OR10A2	341276	broad.mit.edu	37	11	6891570	6891570	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:6891570G>A	ENST00000307322.4	+	1	647	c.585G>A	c.(583-585)atG>atA	p.M195I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M195I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGTGGTCATGATCCCCTGCT	0.493000													52	63					0	0	0.014410	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887308	12887308	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:12887308C>G	ENST00000535591.1	-	3	744	c.549G>C	c.(547-549)caG>caC	p.Q183H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	183								p.Q183H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGGGGTAAACTGTGTCAGGA	0.498000													12	357					0	0	0.010729	0	0
C9orf85	138241	broad.mit.edu	37	9	74526699	74526699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:74526699C>T	ENST00000486911.2	+	1	123	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	C9orf85_ENST00000377031.3_Nonsense_Mutation_p.Q17*|C9orf85_ENST00000334731.2_Nonsense_Mutation_p.Q17*			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	17								p.Q17*(2)		kidney(2)|large_intestine(1)|lung(4)	7						TCAGAAGCACCAGAATACGTT	0.522000													47	135					0	0	0.014410	0	0
EPC1	80314	broad.mit.edu	37	10	32581941	32581941	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:32581941C>T	ENST00000319778.6	-	4	943	c.641G>A	c.(640-642)cGt>cAt	p.R214H	EPC1_ENST00000263062.8_Missense_Mutation_p.R214H|EPC1_ENST00000375110.2_Missense_Mutation_p.R164H	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	214					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.R214H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTTTTCAGTACGCCTTCTAAA	0.323000													17	29					0	0	0.002780	0	0
ZNF831	128611	broad.mit.edu	37	20	57767489	57767489	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:57767489C>A	ENST00000371030.2	+	1	1415	c.1415C>A	c.(1414-1416)tCc>tAc	p.S472Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	472						intracellular	nucleic acid binding|zinc ion binding	p.S472Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGTGCGCTCCACCTGGACG	0.662000													19	30					1.87028e-06	2.22096e-06	0.012319	1	0
ZNF493	284443	broad.mit.edu	37	19	21606023	21606023	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:21606023G>T	ENST00000392288.2	+	4	671	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G60C	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G60C(1)|p.G188C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAAATGTGGCAAATCATT	0.299000													31	44					3.80469e-20	6.54342e-20	0.009535	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146741138	146741138	+	Missense_Mutation	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:146741138G>C	ENST00000361727.3	+	4	1058	c.542G>C	c.(541-543)tGt>tCt	p.C181S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	181	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C181S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTTATGGCTGTTCTTACTGT	0.353000										HNSCC(39;0.1)			46	64					0	0	0.014410	0	0
IFITM5	387733	broad.mit.edu	37	11	298710	298710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:298710G>A	ENST00000382614.2	-	2	225	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	64					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane		p.R64*(1)		lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCTGATCTCGGGCCTGCAGA	0.652000													9	13					0	0	0.004482	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115000	27115000	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:27115000G>A	ENST00000377459.1	+	1	140	c.93G>A	c.(91-93)gtG>gtA	p.V31V		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	31					nucleosome assembly	nucleosome|nucleus	DNA binding	p.V31V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGGGCCGAGTGCACCGCCTGC	0.647000													20	46					0	0	0.008871	0	0
DSC1	1823	broad.mit.edu	37	18	28711658	28711658	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:28711658C>G	ENST00000257197.3	-	15	2647	c.2386G>C	c.(2386-2388)Gga>Cga	p.G796R	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G796R	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	796					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.G796R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTCTGATGTCCACCTCCTTTG	0.517000													38	85					0	0	0.005524	0	0
FCHO1	23149	broad.mit.edu	37	19	17895735	17895735	+	Splice_Site	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:17895735T>A	ENST00000594202.1	+	26	2705		c.e26+2		FCHO1_ENST00000596536.1_Splice_Site|FCHO1_ENST00000600676.1_Splice_Site|FCHO1_ENST00000539407.1_Splice_Site|FCHO1_ENST00000596951.1_Splice_Site|FCHO1_ENST00000252771.7_Splice_Site|FCHO1_ENST00000595033.1_Splice_Site|FCHO1_ENST00000597512.1_Splice_Site|FCHO1_ENST00000389133.4_Splice_Site	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1									p.?(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCCACCTGGTGAGGGCTTGC	0.627000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	26					0	0	0.004990	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175047	207175047	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:207175047G>T	ENST00000374423.3	+	5	6181	c.5795G>T	c.(5794-5796)cGt>cTt	p.R1932L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1932							nucleic acid binding|zinc ion binding	p.R1932L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAAGGGGCGTGTGGCTTCT	0.433000													22	47					4.26978e-12	5.99874e-12	0.003330	1	0
ALDH3A1	218	broad.mit.edu	37	17	19645887	19645887	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:19645887C>T	ENST00000457500.2	-	3	780	c.451G>A	c.(451-453)Gct>Act	p.A151T	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A151T|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A78T|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A151T|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A151T	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	151					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	p.A151T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATGATGGTAGCCAGCAGGCTC	0.607000													5	75					0	0	0.001984	0	0
PTPRK	5796	broad.mit.edu	37	6	128307001	128307001	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:128307001C>A	ENST00000368227.3	-	23	3533	c.3167G>T	c.(3166-3168)cGt>cTt	p.R1056L	PTPRK_ENST00000368210.3_Missense_Mutation_p.R1057L|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1038L|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1071L|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1039L|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1061L|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1045L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1038	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1039L(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTAACTTCACGGATTTCATT	0.433000													27	8					2.12542e-12	3.01794e-12	0.006320	1	0
NAPSA	9476	broad.mit.edu	37	19	50862784	50862784	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:50862784C>A	ENST00000253719.2	-	7	1120	c.912G>T	c.(910-912)ggG>ggT	p.G304G	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	304					proteolysis	extracellular region	aspartic-type endopeptidase activity	p.G304G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGGGGATTCCCCCAATGGCTG	0.617000													21	27					6.44725e-10	8.51806e-10	0.014323	1	0
RAD21	5885	broad.mit.edu	37	8	117866674	117866674	+	Missense_Mutation	SNP	A	A	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:117866674A>G	ENST00000297338.2	-	9	1258	c.971T>C	c.(970-972)cTa>cCa	p.L324P		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	324	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.L324P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTCAACAATTAGCTTCCTCTT	0.393000													51	97					0	0	0.014410	0	0
JARID2	3720	broad.mit.edu	37	6	15468781	15468781	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:15468781G>T	ENST00000341776.2	+	5	746	c.502G>T	c.(502-504)Gcg>Tcg	p.A168S	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.A130S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	168					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	p.A168S(1)		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)				AGGTTCTCCTGCGCTGCCCAA	0.478000													16	60					0.00074312	0.000810123	0.006122	1	0
SPINK2	6691	broad.mit.edu	37	4	57677865	57677865	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:57677865C>T	ENST00000506738.1	-	3	424	c.345G>A	c.(343-345)ctG>ctA	p.L115L	SPINK2_ENST00000248701.4_Silent_p.L65L|SPINK2_ENST00000504762.1_Silent_p.L100L	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	65						extracellular region	serine-type endopeptidase inhibitor activity	p.L65L(1)		kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					TTTTCATGCACAGAGTACATT	0.388000													34	64					0	0	0.003271	0	0
MED11	400569	broad.mit.edu	37	17	4635147	4635147	+	Silent	SNP	T	T	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:4635147T>G	ENST00000293777.5	+	2	218	c.162T>G	c.(160-162)gcT>gcG	p.A54A	MED11_ENST00000575284.1_Silent_p.A54A|MED11_ENST00000573708.1_Silent_p.A54A|RP11-314A20.5_ENST00000570493.2_RNA	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	54					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	p.A54A(1)		lung(2)|ovary(2)	4						CCTTCACCGCTTCAGTGCAAC	0.627000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0	0	0.004672	0	0
TMEM2	23670	broad.mit.edu	37	9	74360174	74360174	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:74360174C>A	ENST00000377044.4	-	4	1333	c.794G>T	c.(793-795)cGg>cTg	p.R265L	TMEM2_ENST00000377066.5_Missense_Mutation_p.R265L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	265						integral to membrane		p.R265L(1)		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)		ATTGAGGCCCCGGGAAAAGTC	0.507000													12	24					5.16669e-11	7.08422e-11	0.010729	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32894031	32894031	+	RNA	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:32894031G>T	ENST00000330048.5	-	0	1226					NR_003083.2																						GGTAATAGAAGCCCCAGGCCA	0.572000													14	13					7.93312e-07	9.50545e-07	0.002450	1	0
CFH	3075	broad.mit.edu	37	1	196658675	196658675	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:196658675C>A	ENST00000367429.4	+	8	1330	c.1090C>A	c.(1090-1092)Ccg>Acg	p.P364T	CFH_ENST00000439155.2_Missense_Mutation_p.P364T|CFH_ENST00000359637.2_Missense_Mutation_p.P300T	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	364	Sushi 6.				complement activation, alternative pathway	extracellular space		p.P364T(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTTGAGACTCCGTCAGGAAG	0.403000													31	94					9.65021e-13	1.39508e-12	0.010818	1	0
GPR179	440435	broad.mit.edu	37	17	36484370	36484370	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:36484370C>T	ENST00000342292.4	-	11	5102	c.5082G>A	c.(5080-5082)gaG>gaA	p.E1694E	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1694						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E1694E(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCAAGTTTTCCTCCACATCCA	0.552000													37	59					0	0	0.004289	0	0
NDUFB6	4712	broad.mit.edu	37	9	32570992	32570992	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:32570992C>A	ENST00000379847.3	-	2	340	c.239G>T	c.(238-240)tGg>tTg	p.W80L	NDUFB6_ENST00000350021.2_Missense_Mutation_p.W80L	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	80					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.W80F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	ATGAATAATCCAGACAGGTAC	0.318000													7	22					3.09899e-07	3.84005e-07	0.004482	1	0
EPN2	22905	broad.mit.edu	37	17	19216459	19216459	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:19216459G>T	ENST00000314728.5	+	7	1498	c.1014G>T	c.(1012-1014)atG>atT	p.M338I	EPN2_ENST00000395626.1_Missense_Mutation_p.M338I|EPN2_ENST00000575595.1_Missense_Mutation_p.M46I|EPN2_ENST00000571254.1_Missense_Mutation_p.M274I|EPN2_ENST00000347697.2_Missense_Mutation_p.M281I|EPN2_ENST00000395618.3_Missense_Mutation_p.M53I|EPN2_ENST00000395620.2_Missense_Mutation_p.M281I	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	338					endocytosis		lipid binding	p.M338I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGGATTTAATGGATGCTCTCC	0.577000													49	78					3.4597e-24	6.1352e-24	0.014410	1	0
ZER1	10444	broad.mit.edu	37	9	131512987	131512987	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:131512987T>A	ENST00000291900.2	-	8	1673	c.1267A>T	c.(1267-1269)Aat>Tat	p.N423Y		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	423					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.N423Y(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TACTCGGAATTTGTTAGGTAG	0.552000													48	48					0	0	0.014410	0	0
OR5I1	10798	broad.mit.edu	37	11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433000													14	27					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237895442	237895442	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:237895442G>T	ENST00000366574.2	+	78	11349	c.11032G>T	c.(11032-11034)Gag>Tag	p.E3678*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3662*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3676*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3676*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTTTAACAGAGAAATGGTA	0.453000													14	42					3.27435e-08	4.13439e-08	0.002450	1	0
SPATA9	83890	broad.mit.edu	37	5	94999696	94999696	+	Silent	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:94999696A>T	ENST00000274432.8	-	4	576	c.435T>A	c.(433-435)acT>acA	p.T145T	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	145					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.T145T(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATATTATGCTAGTTAAAGCAG	0.274000													6	11					0	0	0.001984	0	0
CMYA5	202333	broad.mit.edu	37	5	79033143	79033143	+	Missense_Mutation	SNP	A	A	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:79033143A>C	ENST00000446378.2	+	2	8586	c.8555A>C	c.(8554-8556)cAg>cCg	p.Q2852P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2852						perinuclear region of cytoplasm		p.Q2852P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATACTATTCAGACATCTAAA	0.428000													35	87					0	0	0.013114	0	0
ST14	6768	broad.mit.edu	37	11	130068228	130068228	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:130068228G>T	ENST00000278742.5	+	13	1903	c.1485G>T	c.(1483-1485)acG>acT	p.T495T		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	495	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.T495T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCAGTTCACGTGCAAGAACA	0.627000													26	72					3.99451e-17	6.45267e-17	0.009535	1	0
THSD1	55901	broad.mit.edu	37	13	52972283	52972283	+	Silent	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:52972283T>A	ENST00000349258.4	-	3	649	c.105A>T	c.(103-105)gtA>gtT	p.V35V	THSD1_ENST00000258613.4_Silent_p.V35V|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	35						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.V35V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGCTTAGTGCTACATGGCCTG	0.428000													52	102					0	0	0.014410	0	0
STT3A	3703	broad.mit.edu	37	11	125481361	125481361	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:125481361C>T	ENST00000392708.4	+	11	1315	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	STT3A_ENST00000529196.1_Missense_Mutation_p.R386W|STT3A_ENST00000531491.1_Missense_Mutation_p.R294W	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	386					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.R386W(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GTCTGATGCCCGGATTTTTAT	0.438000													44	133					0	0	0.014410	0	0
SUSD4	55061	broad.mit.edu	37	1	223536632	223536632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:223536632G>A	ENST00000343846.3	-	1	769	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q46*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	46						integral to membrane		p.Q46*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CCCGTGAGCTGTGCAGGGCCG	0.647000													7	10					0	0	0.006214	0	0
CCDC25	55246	broad.mit.edu	37	8	27606050	27606050	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:27606050T>A	ENST00000356537.4	-	6	403	c.310A>T	c.(310-312)Atg>Ttg	p.M104L	CCDC25_ENST00000539095.1_Missense_Mutation_p.M36L|CCDC25_ENST00000522915.1_Missense_Mutation_p.M36L|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	104								p.M104L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CCCACATCCATGTCAGCTGTT	0.483000													47	88					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237765331	237765331	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:237765331C>A	ENST00000366574.2	+	35	4920	c.4603C>A	c.(4603-4605)Ccg>Acg	p.P1535T	RYR2_ENST00000542537.1_Missense_Mutation_p.P1519T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1533T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1535	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1533T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGTGGAACCGAGTACAAA	0.313000													10	20					6.40141e-05	7.23559e-05	0.010729	1	0
TAS2R38	5726	broad.mit.edu	37	7	141673320	141673320	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:141673320A>T	ENST00000547270.1	-	1	253	c.170T>A	c.(169-171)cTg>cAg	p.L57Q		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	57					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L57Q(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAGACACAGCAGCACACAATC	0.502000													21	30					0	0	0.008871	0	0
DSG4	147409	broad.mit.edu	37	18	28983407	28983407	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr18:28983407C>T	ENST00000359747.4	+	11	1475	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.T482T|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	482	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.T482T(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTACAGGAACCATATGTATTG	0.393000													10	15					0	0	0.010729	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711741	151711741	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:151711741G>A	ENST00000392800.2	+	8	1293	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G347R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	347	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.G347R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTGGATGTGTGGAGGCCAACT	0.398000													46	75					0	0	0.014410	0	0
CTSA	5476	broad.mit.edu	37	20	44526386	44526386	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:44526386G>A	ENST00000372484.3	+	13	1531	c.1249G>A	c.(1249-1251)Gta>Ata	p.V417I	CTSA_ENST00000354880.5_Missense_Mutation_p.V400I|CTSA_ENST00000372459.2_Missense_Mutation_p.V399I|CTSA_ENST00000191018.5_Missense_Mutation_p.V399I	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	399					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	p.V417I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAATGGAGATGTAGACATGGC	0.498000													32	74					0	0	0.003271	0	0
VWA2	340706	broad.mit.edu	37	10	116008476	116008476	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:116008476C>T	ENST00000603594.1	+	2	325	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S	VWA2_ENST00000392982.3_Missense_Mutation_p.P2S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	2						extracellular region		p.P2S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TATCAACATGCCCCCTTTCCT	0.478000													6	83					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9089924	9089924	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:9089924T>A	ENST00000397910.4	-	1	2094	c.1891A>T	c.(1891-1893)Aca>Tca	p.T631S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	631	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T631S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGATGCTGTGGCTCTGGTG	0.582000													39	59					0	0	0.007835	0	0
KIF6	221458	broad.mit.edu	37	6	39513404	39513404	+	Silent	SNP	A	A	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:39513404A>C	ENST00000287152.7	-	11	1336	c.1242T>G	c.(1240-1242)gtT>gtG	p.V414V	KIF6_ENST00000538893.1_Silent_p.V414V|KIF6_ENST00000373216.3_Silent_p.V414V|KIF6_ENST00000373215.3_Silent_p.V414V|KIF6_ENST00000373213.4_Silent_p.V253V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	414					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.V414V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TATCCGCGCCAACCTCTAATC	0.373000													35	122					0	0	0.003755	0	0
LRP2	4036	broad.mit.edu	37	2	170031733	170031733	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:170031733C>G	ENST00000263816.3	-	55	11023	c.10738G>C	c.(10738-10740)Gat>Cat	p.D3580H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3580	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.D3580H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAGACCCATCAGGGCAATTT	0.507000													23	34					0	0	0.006320	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769471	112769471	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:112769471C>T	ENST00000390666.3	-	1	1257	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	356					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G356R(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGGGGGGGCCCTTCCTCTGTC	0.592000													13	16					0	0	0.004007	0	0
PIGV	55650	broad.mit.edu	37	1	27120800	27120800	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:27120800C>T	ENST00000374145.1	+	3	957	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PIGV_ENST00000078527.4_Missense_Mutation_p.P92L|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	92					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	p.P92L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CCTGGTTTCCCCTTGGCCCTG	0.522000													32	36					0	0	0.012213	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535696	90535696	+	RNA	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:90535696C>G	ENST00000602681.1	+	0	1600																											AGTTTCTGCCCTCTCCTGGTC	0.552000													28	78					0	0	0.004656	0	0
FER	2241	broad.mit.edu	37	5	108380486	108380486	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:108380486C>A	ENST00000281092.4	+	15	2203	c.1819C>A	c.(1819-1821)Caa>Aaa	p.Q607K	FER_ENST00000438717.2_Missense_Mutation_p.Q432K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	607	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q607K(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAATTTTTACAAGAAGCCAA	0.244000													19	51					0.00074312	0.000810123	0.006122	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995776	57995776	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:57995776C>T	ENST00000316770.2	-	1	614	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	191			R -> C (in dbSNP:rs11229301).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R191H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCAGGCCAGGCGCAGGACGGG	0.612000													22	22					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168103076	168103076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:168103076C>A	ENST00000409195.1	+	9	5263	c.5174C>A	c.(5173-5175)tCa>tAa	p.S1725*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1725*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1503*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1550					actin cytoskeleton organization	cell junction	actin binding	p.S1725*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTCCACATCAAACAATAAA	0.363000													18	35					5.3912e-06	6.32674e-06	0.006122	1	0
DENND3	22898	broad.mit.edu	37	8	142154254	142154254	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:142154254G>T	ENST00000519811.1	+	5	701	c.631G>T	c.(631-633)Gct>Tct	p.A211S	DENND3_ENST00000262585.2_Missense_Mutation_p.A131S|DENND3_ENST00000424248.1_Missense_Mutation_p.A131S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	131	DENN.							p.A131S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGTTTATTGGCTCTTCTGAA	0.438000													20	20					1.00905e-13	1.50228e-13	0.008871	1	0
PCDH17	27253	broad.mit.edu	37	13	58207804	58207804	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:58207804G>T	ENST00000377918.3	+	1	1150	c.1124G>T	c.(1123-1125)cGg>cTg	p.R375L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R375L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCCTGGTGCGGGTCACTGAC	0.731000													12	22					0.000219431	0.000246629	0.002450	1	0
CCDC141	285025	broad.mit.edu	37	2	179732906	179732906	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:179732906C>G	ENST00000420890.2	-	16	2538	c.2421G>C	c.(2419-2421)gaG>gaC	p.E807D	CCDC141_ENST00000295723.5_Missense_Mutation_p.E232D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	232							protein binding	p.E232D(1)|p.E807D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAACTCCAGCTCTCTTGATT	0.433000													19	39					0	0	0.012319	0	0
F5	2153	broad.mit.edu	37	1	169493096	169493096	+	Nonsense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:169493096A>T	ENST00000367796.3	-	20	6051	c.5850T>A	c.(5848-5850)taT>taA	p.Y1950*	F5_ENST00000367797.3_Nonsense_Mutation_p.Y1945*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1945	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y1945*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCAAGCATTATAAGATCCAC	0.343000													45	161					0	0	0.014410	0	0
HOXB3	3213	broad.mit.edu	37	17	46627701	46627701	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:46627701G>T	ENST00000470495.1	-	2	2738	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	HOXB3_ENST00000498678.1_Missense_Mutation_p.L431M|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.L358M|HOXB3_ENST00000472863.1_Missense_Mutation_p.L358M|HOXB3_ENST00000476342.1_Missense_Mutation_p.L431M|HOXB3_ENST00000460160.1_Missense_Mutation_p.L299M|HOXB3_ENST00000311626.4_Missense_Mutation_p.L431M|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.L297M|HOXB3_ENST00000485909.2_Missense_Mutation_p.L299M|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	431					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L431M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCCCATCACAGGTGTGTTAAT	0.592000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	40					3.73988e-18	6.24357e-18	0.006320	1	0
SIAH3	283514	broad.mit.edu	37	13	46358033	46358033	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:46358033C>A	ENST00000400405.2	-	2	401	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	99					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.A99S(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ACCGGGTTGGCGTGCAGCCCC	0.682000													19	24					1.2644e-06	1.50596e-06	0.010504	1	0
F13A1	2162	broad.mit.edu	37	6	6305670	6305670	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:6305670C>A	ENST00000264870.3	-	3	498	c.233G>T	c.(232-234)cGc>cTc	p.R78L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	78					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R78L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTGCCCTCTGCGGACAATCAG	0.478000													17	85					4.7546e-09	6.13944e-09	0.004007	1	0
CELA3A	10136	broad.mit.edu	37	1	22336244	22336244	+	Missense_Mutation	SNP	G	G	T	rs146504981		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:22336244G>T	ENST00000290122.3	+	7	708	c.689G>T	c.(688-690)tGg>tTg	p.W230L		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A									p.W230L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATGGTGGCTGGCAGGTCCAC	0.577000													14	33					2.32078e-09	3.01626e-09	0.003163	1	0
GAS1	2619	broad.mit.edu	37	9	89561033	89561033	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:89561033T>A	ENST00000298743.7	-	1	1071	c.662A>T	c.(661-663)gAc>gTc	p.D221V		NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	221					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane		p.D221V(1)		kidney(1)|lung(2)|skin(1)	4						GCACACGCAGTCGTTGAGCAG	0.667000													6	21					0	0	0.004482	0	0
NUP214	8021	broad.mit.edu	37	9	134073346	134073346	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:134073346G>T	ENST00000359428.5	+	29	4609	c.4465G>T	c.(4465-4467)Gct>Tct	p.A1489S	NUP214_ENST00000411637.2_Missense_Mutation_p.A1479S|NUP214_ENST00000451030.1_Missense_Mutation_p.A1490S|NUP214_ENST00000483497.2_Missense_Mutation_p.A315S			P35658	NU214_HUMAN	nucleoporin 214kDa	1489	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.A1489S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCTATGTCCGCTGGCAGAAG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								38	120					2.87052e-16	4.54499e-16	0.005524	1	0
THNSL2	55258	broad.mit.edu	37	2	88472892	88472892	+	Splice_Site	SNP	G	G	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:88472892G>C	ENST00000324166.5	+	1	1914	c.223_splice	c.e1+1	p.D75_splice	THNSL2_ENST00000343544.4_Splice_Site_p.D75_splice|THNSL2_ENST00000449349.1_Splice_Site_p.D43_splice|THNSL2_ENST00000358591.2_Splice_Site_p.D75_splice|THNSL2_ENST00000402102.1_Splice_Site_p.D75_splice|THNSL2_ENST00000377254.3_Splice_Site_p.D75_splice	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	75					threonine biosynthetic process		threonine synthase activity	p.D75H(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGAATTAAATGGTGAGTGCTC	0.507000													6	15					0	0	0.001168	0	0
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:56667670C>T	ENST00000379818.3	+	3	601	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.						metal ion binding	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622000													42	103					0	0	0.014410	0	0
ASMT	438	broad.mit.edu	37	X	1748717	1748717	+	Silent	SNP	C	C	A	rs144935309		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:1748717C>A	ENST00000381241.3	+	5	646	c.447C>A	c.(445-447)tcC>tcA	p.S149S	ASMT_ENST00000381233.3_Silent_p.S149S|ASMT_ENST00000381229.4_Silent_p.S149S|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	149					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.S149S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGCCAGGTCCGAGGGCGAGC	0.572000													47	123					8.44121e-28	1.53093e-27	0.014410	1	0
IPO13	9670	broad.mit.edu	37	1	44415696	44415696	+	Missense_Mutation	SNP	A	A	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:44415696A>C	ENST00000372343.3	+	2	1354	c.692A>C	c.(691-693)cAg>cCg	p.Q231P		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	231					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q231P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGCTGGGTGCAGCTGGAGGTG	0.617000													7	13					0	0	0.001984	0	0
COL5A1	1289	broad.mit.edu	37	9	137623349	137623349	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:137623349C>T	ENST00000371817.3	+	8	1586	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	391	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P391L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCCAGCTCCGCCTCCAGGG	0.632000													8	44					0	0	0.004482	0	0
APPBP2	10513	broad.mit.edu	37	17	58525167	58525167	+	Missense_Mutation	SNP	A	A	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr17:58525167A>C	ENST00000083182.3	-	13	1820	c.1533T>G	c.(1531-1533)agT>agG	p.S511R		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	511					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.S511R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATTCTAGTCCACTGTAGCCCT	0.323000													29	55					0	0	0.008361	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131785626	131785626	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:131785626G>T	ENST00000392953.3	+	5	1055	c.536G>T	c.(535-537)gGa>gTa	p.G179V	ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G179V|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G108V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G179V|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G179V	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	179					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.G179L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCCACCCTGGAGGGGGTGGG	0.622000													9	15					6.40141e-05	7.23559e-05	0.010729	1	0
GAPT	202309	broad.mit.edu	37	5	57790735	57790735	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:57790735C>A	ENST00000396776.2	+	3	834	c.372C>A	c.(370-372)atC>atA	p.I124I	GAPT_ENST00000318469.2_Silent_p.I124I	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	124					B cell activation	integral to membrane|plasma membrane		p.I124I(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGAGCATATCTATGGAAATG	0.378000													37	72					1.91236e-09	2.49356e-09	0.009718	1	0
BCHE	590	broad.mit.edu	37	3	165548104	165548104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:165548104C>A	ENST00000264381.3	-	2	884	c.718G>T	c.(718-720)Gga>Tga	p.G240*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	240					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.G240*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GAATGGCTTCCAGGAGAAAGC	0.428000													25	52					4.26978e-12	5.99874e-12	0.003330	1	0
LARGE	9215	broad.mit.edu	37	22	34046467	34046467	+	Silent	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr22:34046467G>A	ENST00000354992.2	-	4	865	c.294C>T	c.(292-294)caC>caT	p.H98H	LARGE_ENST00000402320.1_Silent_p.H98H|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000437602.2_Silent_p.H98H|LARGE_ENST00000397394.2_Silent_p.H98H|LARGE_ENST00000337431.2_Silent_p.H98H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	98					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.H98H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTCTTGGAGTGGTTGCCTC	0.682000													34	65					0	0	0.004878	0	0
TNPO2	30000	broad.mit.edu	37	19	12821473	12821473	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:12821473T>A	ENST00000425528.1	-	13	1589	c.1232A>T	c.(1231-1233)aAg>aTg	p.K411M	TNPO2_ENST00000450764.2_Missense_Mutation_p.K411M|TNPO2_ENST00000356861.5_Missense_Mutation_p.K411M|TNPO2_ENST00000588216.1_Missense_Mutation_p.K411M|TNPO2_ENST00000592287.1_Missense_Mutation_p.K411M|TNPO2_ENST00000441499.1_Missense_Mutation_p.K411M			O14787	TNPO2_HUMAN	transportin 2	411					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.K411M(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCCGACTCCTTGACCACCCA	0.622000													10	11					0	0	0.010729	0	0
ANTXR1	84168	broad.mit.edu	37	2	69300168	69300168	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:69300168A>T	ENST00000303714.4	+	6	749	c.427A>T	c.(427-429)Agc>Tgc	p.S143C	ANTXR1_ENST00000409829.3_Missense_Mutation_p.S143C|ANTXR1_ENST00000409349.3_Missense_Mutation_p.S143C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	143	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S143C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGGACAGCCAGCGTCATCAT	0.483000									Familial Infantile Hemangioma				56	118					0	0	0.014410	0	0
APOBEC1	339	broad.mit.edu	37	12	7803640	7803640	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:7803640C>A	ENST00000229304.4	-	4	560	c.540G>T	c.(538-540)ctG>ctT	p.L180L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	180	Leu-rich.				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	p.L180L(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGTGCAGCTCCAGTGCGTACA	0.433000													47	82					3.68337e-26	6.62012e-26	0.014410	1	0
COL4A1	1282	broad.mit.edu	37	13	110831356	110831356	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:110831356C>A	ENST00000375820.4	-	31	2493	c.2372G>T	c.(2371-2373)gGc>gTc	p.G791V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	791	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G791V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCACGGAGCCTGGCAATCC	0.607000													5	16					0.00116845	0.00126344	0.001168	1	0
LAMC3	10319	broad.mit.edu	37	9	133927929	133927929	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:133927929C>T	ENST00000361069.4	+	10	1815	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	561	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.T561I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCATACTGACCTTCCGGGTG	0.592000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	97					0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9009593	9009593	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:9009593C>A	ENST00000397910.4	-	39	39336	c.39133G>T	c.(39133-39135)Ggt>Tgt	p.G13045C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13047	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G13045C(1)|p.G197C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAACCAGACCCTGCAGGACC	0.552000													57	80					1.84395e-34	3.43802e-34	0.014410	1	0
MB21D2	151963	broad.mit.edu	37	3	192516570	192516570	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:192516570G>A	ENST00000392452.2	-	2	1401	c.1081C>T	c.(1081-1083)Ctc>Ttc	p.L361F		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	361								p.L359F(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TCATCGATGAGGCCCAGCAAA	0.517000													12	33					0	0	0.001855	0	0
VANGL2	57216	broad.mit.edu	37	1	160393962	160393962	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:160393962G>T	ENST00000368061.2	+	7	1668	c.1194G>T	c.(1192-1194)atG>atT	p.M398I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	398					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.M398I(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCATCCATGGCCCGTGCCA	0.577000													23	45					2.32416e-17	3.80057e-17	0.014323	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125367414	125367414	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:125367414A>T	ENST00000431078.1	+	12	2154	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q597L(1)|p.Q597P(1)		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)		TACAGGCACCAGGGGAATACA	0.532000													18	48					0	0	0.008871	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854828	21854828	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:21854828C>A	ENST00000415645.2	-	4	463	c.424G>T	c.(424-426)Gtc>Ttc	p.V142F	NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.V142F					nuclear pore complex interacting protein family, member B4									p.V1462F(1)|p.V1462I(1)									AGAGTAATGACGTCTTTCAGG	0.398000													41	174					7.63091e-17	1.22772e-16	0.007835	1	0
TMEM38B	55151	broad.mit.edu	37	9	108536211	108536211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:108536211G>A	ENST00000374688.1	+	6	1274	c.564G>A	c.(562-564)tgG>tgA	p.W188*	TMEM38B_ENST00000374692.3_Nonsense_Mutation_p.W242*			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	242						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.W242*(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CATTGAGTTGGATGCTATTTG	0.413000													91	95					0	0	0.014410	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028330	142028330	+	RNA	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:142028330G>A	ENST00000390353.2	+	0	121																											AGTGAATGCTGGTGTCACTCA	0.527000													5	93					0	0	0.006214	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361997	72361997	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:72361997G>T	ENST00000001146.2	-	4	957	c.754C>A	c.(754-756)Cgg>Agg	p.R252R	CYP26B1_ENST00000412253.1_Silent_p.R61R|CYP26B1_ENST00000546307.1_Silent_p.R177R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R252R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCTTCTCCCGGATGGCCTTC	0.602000													20	42					1.28384e-07	1.60079e-07	0.012319	1	0
VCAN	1462	broad.mit.edu	37	5	82833850	82833850	+	Silent	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:82833850A>T	ENST00000265077.3	+	8	5593	c.5028A>T	c.(5026-5028)atA>atT	p.I1676I	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.I689I|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1676	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.I1676I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTAGCAGGATAATCACAGAAA	0.383000													42	59					0	0	0.011902	0	0
CMA1	1215	broad.mit.edu	37	14	24976666	24976666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:24976666G>T	ENST00000250378.3	-	2	134	c.105C>A	c.(103-105)taC>taA	p.Y35*	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	35	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.Y35*(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GGTAGGCCATGTAGGGGCGGG	0.512000													42	124					1.86277e-20	3.24561e-20	0.014410	1	0
OR8J3	81168	broad.mit.edu	37	11	55904334	55904334	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:55904334G>T	ENST00000301529.1	-	1	860	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGTAGATCAAGGGATTCAGCA	0.363000													25	55					8.24728e-16	1.28542e-15	0.004656	1	0
COL6A3	1293	broad.mit.edu	37	2	238285673	238285673	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr2:238285673C>A	ENST00000295550.4	-	7	3264	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	COL6A3_ENST00000346358.4_Missense_Mutation_p.D738Y|COL6A3_ENST00000347401.3_Missense_Mutation_p.D737Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.D732Y|COL6A3_ENST00000392003.2_Missense_Mutation_p.D531Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.D331Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.D732Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.D732Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	938	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D732Y(1)|p.D938Y(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCACTCCATCCTCGATCCGG	0.552000													23	38					6.44725e-10	8.51806e-10	0.014323	1	0
DNAH10	196385	broad.mit.edu	37	12	124330219	124330219	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:124330219G>T	ENST00000409039.3	+	30	5104	c.5079G>T	c.(5077-5079)gtG>gtT	p.V1693V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1693	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V285V(1)|p.V1693V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTGGGAGGTGGAAGACGTCT	0.562000													8	20					0.000274275	0.000303988	0.004482	1	0
HNRNPH3	3189	broad.mit.edu	37	10	70101065	70101065	+	Splice_Site	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:70101065G>T	ENST00000265866.7	+	7	939	c.775_splice	c.e7+1	p.M258_splice	HNRNPH3_ENST00000441000.2_Splice_Site_p.M150_splice|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Splice_Site_p.M243_splice	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	258	Gly-rich.|RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	p.M258I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AAAATAACATGCGTAAGTGGT	0.403000													27	64					1.77063e-15	2.70683e-15	0.005443	1	0
MUC16	94025	broad.mit.edu	37	19	9073672	9073672	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:9073672C>T	ENST00000397910.4	-	3	13977	c.13774G>A	c.(13774-13776)Gag>Aag	p.E4592K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4594	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E4592K(2)|p.E225K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTCTCCCTCAATGTCTGTG	0.502000													10	32					0	0	0.006214	0	0
MYO16	23026	broad.mit.edu	37	13	109507894	109507894	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr13:109507894A>T	ENST00000356711.2	+	11	1412	c.1286A>T	c.(1285-1287)cAg>cTg	p.Q429L	MYO16_ENST00000251041.5_Missense_Mutation_p.Q429L|MYO16_ENST00000357550.2_Missense_Mutation_p.Q429L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	429	Myosin head-like 1.				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	p.Q429L(1)		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)			GGGAACAATCAGATCTATGTG	0.468000													15	10					0	0	0.004990	0	0
RD3	343035	broad.mit.edu	37	1	211652548	211652548	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:211652548G>A	ENST00000367002.4	-	3	1581	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	140					response to stimulus|visual perception			p.R140C(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CTCCACTGGCGCGTCAGCTTG	0.682000													6	17					0	0	0.001984	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	42					0	0	0.003080	0	0
ASPM	259266	broad.mit.edu	37	1	197087023	197087023	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:197087023C>A	ENST00000367409.4	-	17	4217	c.3961G>T	c.(3961-3963)Gtc>Ttc	p.V1321F	ASPM_ENST00000294732.7_Missense_Mutation_p.V1321F|ASPM_ENST00000367408.1_Missense_Mutation_p.V571F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1321					mitosis	cytoplasm|nucleus	calmodulin binding	p.V1321F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTGAATGACGAGTGCTGCA	0.313000													40	203					1.47197e-15	2.26763e-15	0.007835	1	0
ADAM19	8728	broad.mit.edu	37	5	156923992	156923992	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:156923992C>A	ENST00000257527.4	-	14	1582	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	ADAM19_ENST00000430702.2_Missense_Mutation_p.D235Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.D502Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.D504Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	502	Cys-rich.|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.D502Y(1)|p.D503Y(1)		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)			GGGGTACCATCCATCTGGTAG	0.642000													9	19					3.09899e-07	3.84005e-07	0.004482	1	0
OR1F2P	26184	broad.mit.edu	37	16	3265781	3265781	+	RNA	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:3265781C>G	ENST00000576468.1	+	0	418																											GCCTGCACACCCCCATGTACT	0.532000													13	35					0	0	0.004990	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	15					0	0	0.009096	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273100	2273100	+	Missense_Mutation	SNP	T	T	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:2273100T>A	ENST00000290974.2	-	12	2809	c.2470A>T	c.(2470-2472)Acg>Tcg	p.T824S	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.T129S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T754S|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T794S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	824					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.T824S(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TTGCACGCCGTGCAGAAGCCA	0.667000													5	9					0	0	0.001168	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003955	27003955	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr22:27003955G>T	ENST00000215939.2	-	4	460	c.330C>A	c.(328-330)cgC>cgA	p.R110R		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	110	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.R110R(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACATCTCCCCGCGGAAGTTGG	0.562000													10	21					4.36969e-10	5.83113e-10	0.001855	1	0
DENND2D	79961	broad.mit.edu	37	1	111730977	111730977	+	Missense_Mutation	SNP	T	T	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:111730977T>C	ENST00000357640.4	-	11	1344	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S	DENND2D_ENST00000369752.5_Missense_Mutation_p.N369S	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	372	dDENN.							p.N372S(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AACATGCTCGTTGATTTGTTC	0.473000													31	48					0	0	0.003755	0	0
USH1C	10083	broad.mit.edu	37	11	17531201	17531201	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:17531201G>T	ENST00000005226.7	-	18	1714	c.1715C>A	c.(1714-1716)cCa>cAa	p.P572Q	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.P572Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTGTGGGGTGGGTTGGAGGG	0.622000													10	6					0.000442599	0.000487837	0.006214	1	0
ZNF560	147741	broad.mit.edu	37	19	9578057	9578057	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:9578057C>T	ENST00000301480.4	-	10	1779	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G522G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAAATGGTTTCCCACATTTGT	0.398000													21	80					0	0	0.003954	0	0
GFPT2	9945	broad.mit.edu	37	5	179729493	179729493	+	Missense_Mutation	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:179729493A>T	ENST00000253778.8	-	18	2103	c.1934T>A	c.(1933-1935)cTc>cAc	p.L645H		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	645	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.L645H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATGCCCTGGAGGCAGTCCAC	0.532000													28	53					0	0	0.006320	0	0
TRPC1	7220	broad.mit.edu	37	3	142503761	142503761	+	Silent	SNP	A	A	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:142503761A>T	ENST00000273482.6	+	6	1465	c.1074A>T	c.(1072-1074)gcA>gcT	p.A358A	TRPC1_ENST00000476941.1_Silent_p.A392A	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	392					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A358A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCATGGAGCATCATATTTCA	0.363000													10	38					0	0	0.010729	0	0
ZNF831	128611	broad.mit.edu	37	20	57767353	57767353	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr20:57767353G>T	ENST00000371030.2	+	1	1279	c.1279G>T	c.(1279-1281)Gtg>Ttg	p.V427L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	427						intracellular	nucleic acid binding|zinc ion binding	p.V427L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTGGACAACGTGCGGCCCCG	0.647000													7	12					0.000157383	0.00017739	0.003080	1	0
SRRM3	222183	broad.mit.edu	37	7	75894699	75894699	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:75894699C>T	ENST00000388802.4	+	10	952	c.743C>T	c.(742-744)cCa>cTa	p.P248L	SRRM3_ENST00000326382.8_Missense_Mutation_p.P248L					serine/arginine repetitive matrix 3									p.P248L(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACAGAGTCCCCAGGCCGGAGG	0.647000													3	22					0	0	0.009096	0	0
LINC00207	388910	broad.mit.edu	37	22	44967343	44967343	+	RNA	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr22:44967343G>A	ENST00000605505.1	+	0	334					NR_028409.1													p.G71G(2)		lung(3)	3						CATCTGGAGGGACGTCCTGTC	0.562000													8	24					0	0	0.004482	0	0
NUDT12	83594	broad.mit.edu	37	5	102895772	102895772	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:102895772C>A	ENST00000230792.2	-	2	274	c.178G>T	c.(178-180)Gag>Tag	p.E60*	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	60						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	p.E60*(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TGGACTATCTCTGGGTGCCCA	0.378000													39	66					5.44703e-19	9.24836e-19	0.009718	1	0
ZNF823	55552	broad.mit.edu	37	19	11833620	11833620	+	Silent	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:11833620C>G	ENST00000341191.6	-	4	882	c.729G>C	c.(727-729)acG>acC	p.T243T	ZNF823_ENST00000545749.1_Silent_p.T61T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T243T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTTTCTCTCCCGTGTGGATTC	0.413000										HNSCC(68;0.2)			35	56					0	0	0.004878	0	0
OR4C46	119749	broad.mit.edu	37	11	51515921	51515921	+	Missense_Mutation	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr11:51515921G>T	ENST00000328188.1	+	1	640	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V214F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTCCTGCTGGTCTCCTATGT	0.517000													26	51					1.85244e-09	2.42336e-09	0.003330	1	0
CUL9	23113	broad.mit.edu	37	6	43172512	43172512	+	Missense_Mutation	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:43172512C>T	ENST00000252050.4	+	22	4450	c.4366C>T	c.(4366-4368)Cgg>Tgg	p.R1456W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1346W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1456W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1456					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.R1456W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGTCGGGACCGGAGCCCGGC	0.597000													24	141					0	0	0.008361	0	0
HLX	3142	broad.mit.edu	37	1	221053271	221053271	+	Silent	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:221053271G>T	ENST00000366903.6	+	1	1573	c.72G>T	c.(70-72)tcG>tcT	p.S24S	HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	24					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ACTGCTCCTCGGCCGGCCCAG	0.697000													4	8					1.23904e-05	1.44133e-05	0.000602	1	0
PDLIM3	27295	broad.mit.edu	37	4	186423472	186423472	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr4:186423472C>A	ENST00000284770.5	-	8	1144	c.1071G>T	c.(1069-1071)acG>acT	p.T357T	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.T309T	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	357						sarcomere	zinc ion binding	p.T357T(2)|p.T309T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACAGAGTGACCGTGTCATAGC	0.562000													28	65					4.15321e-07	5.1146e-07	0.009535	1	0
C8A	731	broad.mit.edu	37	1	57347232	57347232	+	Silent	SNP	C	C	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr1:57347232C>T	ENST00000361249.3	+	5	675	c.579C>T	c.(577-579)acC>acT	p.T193T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	193	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.T193T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGACTCCACCTGTGAACGTC	0.473000													31	94					0	0	0.013726	0	0
IGHV3-66	28412	broad.mit.edu	37	14	107131483	107131483	+	RNA	SNP	G	G	T			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr14:107131483G>T	ENST00000390632.2	-	0	77																											AAACTCCATGGCGAGTCCTCT	0.507000													47	39					4.17328e-34	7.74484e-34	0.014410	1	0
CTNND2	1501	broad.mit.edu	37	5	11346695	11346695	+	Missense_Mutation	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr5:11346695C>A	ENST00000304623.8	-	9	1606	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C	CTNND2_ENST00000511377.1_Missense_Mutation_p.G382C|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40C|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGGCTGCCTGTGCGCTGC	0.617000													21	27					5.26018e-13	7.63204e-13	0.012319	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54537612	54537612	+	Missense_Mutation	SNP	C	C	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:54537612C>G	ENST00000474759.1	+	5	523	c.475C>G	c.(475-477)Cat>Gat	p.H159D	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H159D|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H159D|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H65D	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	159						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.H159D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCAAATGACCATTTTAATAA	0.403000													13	43					0	0	0.013537	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766816	77766816	+	Silent	SNP	C	C	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr8:77766816C>A	ENST00000521891.2	+	10	8107	c.7659C>A	c.(7657-7659)ggC>ggA	p.G2553G	ZFHX4_ENST00000455469.2_Silent_p.G2508G|ZFHX4_ENST00000050961.6_Silent_p.G2508G|ZFHX4_ENST00000518282.1_Silent_p.G2527G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2508						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G2537G(1)		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)			AACTGCTGGGCAGTTCCCTCA	0.512000										HNSCC(33;0.089)			34	44					2.42023e-17	3.9255e-17	0.003271	1	0
GPR97	222487	broad.mit.edu	37	16	57717902	57717902	+	Missense_Mutation	SNP	G	G	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr16:57717902G>A	ENST00000333493.4	+	9	1101	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Missense_Mutation_p.G104S|GPR97_ENST00000450388.3_Missense_Mutation_p.G194S	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	314					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G314S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCTGGGTGGCAGCCTGTT	0.607000													19	39					0	0	0.006122	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	4	---	---	---	---					
LRRC2	79442	broad.mit.edu	37	3	46586690	46586691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:46586690_46586691insG	ENST00000395905.3	-	3	570_571	c.178_179insC	c.(178-180)ggcfs	p.G60fs	LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Frame_Shift_Ins_p.G60fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	60										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTATACAGCCTGGGGGATGCCC	0.530													20	56	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130380698	130380699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:130380698_130380699insC	ENST00000358511.6	+	34	6079_6080	c.6048_6049insC	c.(6046-6051)gcccccfs	p.AP2016fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.AP2016fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2016	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGCCATGCTCCCCCCGACTT	0.515													17	28	---	---	---	---					
AGTR1	185	broad.mit.edu	37	3	148459218	148459218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr3:148459218delC	ENST00000542281.1	+	4	842	c.396delC	c.(394-396)cafs	p.H132fs	AGTR1_ENST00000418473.2_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000461609.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000404754.2_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000497524.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000475347.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000402260.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000474935.1_Frame_Shift_Del_p.H132fs|AGTR1_ENST00000349243.3_Frame_Shift_Del_p.H132fs	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	132					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTATTGTTCACCCAATGAAGT	0.493													51	130	---	---	---	---					
GFRAL	389400	broad.mit.edu	37	6	55198657	55198657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr6:55198657delT	ENST00000340465.2	+	3	317	c.231delT	c.(229-231)aafs	p.N77fs		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	77						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGAAAGCAATTTCCAATTTA	0.348													40	86	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs112122477		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							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)			GACCTCGAGTAACTGCCCCAG	0.667													3	3	---	---	---	---					
NFIB	4781	broad.mit.edu	37	9	14150231	14150231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:14150231delG	ENST00000380959.3	-	5	1192	c.719delC	c.(718-720)cafs	p.P240fs	NFIB_ENST00000380934.4_Frame_Shift_Del_p.P266fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.P240fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.P240fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.P240fs|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397579.2_Frame_Shift_Del_p.P240fs|NFIB_ENST00000543693.1_5'UTR	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	240					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTCTCCAATTGGGAAGTTGAC	0.448			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								81	233	---	---	---	---					
ZNF79	7633	broad.mit.edu	37	9	130207312	130207313	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr9:130207312_130207313delTA	ENST00000342483.5	+	5	1739_1740	c.1333_1334delTA	c.(1333-1335)tfs	p.Y445fs	ZNF79_ENST00000543471.1_Frame_Shift_Del_p.Y421fs	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGAAAAACCTTATGAGTGTAAT	0.460													100	104	---	---	---	---					
RBP3	5949	broad.mit.edu	37	10	48389149	48389149	+	Frame_Shift_Del	DEL	G	G	-	rs149750989	byFrequency	TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:48389149delG	ENST00000224600.4	-	1	1842	c.1729delC	c.(1729-1731)gcfs	p.R577fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	577	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)	GGCACCGTGCGGGTGTGCAGC	0.687													22	82	---	---	---	---					
MAPK8	5599	broad.mit.edu	37	10	49632174	49632174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr10:49632174delC	ENST00000374189.1	+	7	841	c.660delC	c.(658-660)tgfs	p.C220fs	MAPK8_ENST00000374182.3_Frame_Shift_Del_p.C220fs|MAPK8_ENST00000360332.3_Frame_Shift_Del_p.C220fs|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	220	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAATGGTTTGCCACAAAATCC	0.383													17	44	---	---	---	---					
C12orf74	338809	broad.mit.edu	37	12	93100529	93100529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr12:93100529delC	ENST00000544406.2	+	2	388	c.122delC	c.(121-123)gcfs	p.A41fs	C12orf74_ENST00000397833.3_Frame_Shift_Del_p.A41fs			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	41										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GACCGGCAAGCCCCAGGCCGC	0.637													18	50	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34080643	34080644	+	Frame_Shift_Ins	INS	-	-	A			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:34080643_34080644insA	ENST00000389232.4	+	67	9884_9885	c.9814_9815insA	c.(9814-9816)cgtfs	p.R3272fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.R3272fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3272					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)		GCTGATCCGCTACGTGGACAAC	0.550													17	32	---	---	---	---					
RASL12	51285	broad.mit.edu	37	15	65357561	65357562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:65357561_65357562insG	ENST00000220062.4	-	2	429_430	c.153_154insC	c.(151-156)ccacttfs	p.L52fs	RASL12_ENST00000421977.3_Intron|RASL12_ENST00000434605.2_Frame_Shift_Ins_p.L41fs	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	52					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TTACCCAAGTTGGGGTCATATT	0.569													9	8	---	---	---	---					
HAPLN3	145864	broad.mit.edu	37	15	89421235	89421235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr15:89421235delC	ENST00000359595.3	-	5	1263	c.1049delG	c.(1048-1050)ccfs	p.R350fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.R412fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	350	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACCGTACAAGCGGCTCTGCGG	0.612													20	41	---	---	---	---					
CTC-512J12.4	0	broad.mit.edu	37	19	44917435	44917436	+	RNA	INS	-	-	TCCG			TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chr19:44917435_44917436insTCCG	ENST00000588655.1	-	0	488																											TTCtccttccttctttccttcc	0.416													2	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-67-4679-01B-01D-1753-08	TCGA-67-4679-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bf21e-abd5-498e-8c49-111782af842c	ce0ffb10-3747-4401-bb1b-52bc2d4a0537	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	3	---	---	---	---					
