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
ADARB2	105	broad.mit.edu	37	10	1405830	1405830	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:1405830G>T	ENST00000381312.1	-	3	795	c.470C>A	c.(469-471)gCg>gAg	p.A157E		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	157	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACCGCTACCGCGAAGACCGG	0.687000													4	25					1.23904e-05	7.64161e-05	0.000602214	1	0
CYP11B2	1585	broad.mit.edu	37	8	143996466	143996466	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:143996466T>C	ENST00000323110.2	-	3	593	c.591A>G	c.(589-591)atA>atG	p.I197M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	197					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CCACACCTTCTATGGTGTAGT	0.647000									Familial Hyperaldosteronism type I				10	21					0	0	0.000442599	0	0
SRF	6722	broad.mit.edu	37	6	43146097	43146097	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:43146097C>T	ENST00000265354.4	+	5	1586	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	SRF_ENST00000457278.2_Missense_Mutation_p.P206S	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	410					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CATGATGTACCCTAGCCCGCA	0.617000													6	52					0	0	0.000274275	0	0
STOX1	219736	broad.mit.edu	37	10	70641845	70641845	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:70641845C>T	ENST00000298596.6	+	2	525	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	STOX1_ENST00000399165.4_Missense_Mutation_p.R148C|STOX1_ENST00000421961.2_Missense_Mutation_p.R38C|STOX1_ENST00000399169.4_Missense_Mutation_p.R148C|STOX1_ENST00000399162.2_Missense_Mutation_p.R148C	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	148						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACTTTTGGAGCGTTTGATGAA	0.343000													12	75					0	0	0.000422831	0	0
LGR5	8549	broad.mit.edu	37	12	71978333	71978333	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:71978333G>A	ENST00000266674.5	+	18	2854	c.2543G>A	c.(2542-2544)aGc>aAc	p.S848N	LGR5_ENST00000540815.2_Missense_Mutation_p.S824N|LGR5_ENST00000536515.1_Missense_Mutation_p.S776N			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	848						integral to plasma membrane	protein-hormone receptor activity	p.S848I(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAACACCCAAGCTTGATGTCA	0.448000													6	102					0	0	0.00116845	0	0
PCDH7	5099	broad.mit.edu	37	4	30726045	30726045	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:30726045C>T	ENST00000361762.2	+	1	4009	c.3001C>T	c.(3001-3003)Cca>Tca	p.P1001S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1001S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1001					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCTAGTTCCCCATTGCCTAC	0.532000													9	43					0	0	0.000442599	0	0
LRRC49	54839	broad.mit.edu	37	15	71256259	71256259	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:71256259G>T	ENST00000260382.5	+	9	1169	c.909G>T	c.(907-909)atG>atT	p.M303I	LRRC49_ENST00000443425.2_Missense_Mutation_p.M259I|LRRC49_ENST00000560691.1_Missense_Mutation_p.M9I|LRRC49_ENST00000544974.2_Missense_Mutation_p.M293I|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000560369.1_Missense_Mutation_p.M308I|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	303	LRRCT.					cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTAGATATGAAGAGAATCA	0.448000													8	63					5.18039e-06	3.2219e-05	0.000157383	1	0
SEMA3D	223117	broad.mit.edu	37	7	84628881	84628881	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:84628881T>A	ENST00000284136.6	-	17	2252	c.2209A>T	c.(2209-2211)Agg>Tgg	p.R737W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	737					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CGCTTCTCCCTGTGCCACATC	0.493000													5	65					0	0	0.00116845	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863240	16863240	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:16863240G>C	ENST00000355661.3	-	9	736	c.726C>G	c.(724-726)atC>atG	p.I242M	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I242M|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I242M|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	242	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCTGTTATAGATGAGCGCTC	0.552000													3	44					0	0	0.00024832	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452440	64452440	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:64452440G>A	ENST00000394323.2	-	2	1465	c.965C>T	c.(964-966)tCt>tTt	p.S322F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		322						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttcgagggaagaggcggttag	0.468000													5	49					0	0	0.000602214	0	0
EIF3M	10480	broad.mit.edu	37	11	32610279	32610279	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:32610279G>A	ENST00000531120.1	+	3	377		c.e3+1		EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M							eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GACTGCAGTTGTAAGTTAAGA	0.418000													23	71					0	0	0.000375601	0	0
SCN11A	11280	broad.mit.edu	37	3	38889071	38889071	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:38889071A>T	ENST00000302328.3	-	26	4688	c.4490T>A	c.(4489-4491)cTg>cAg	p.L1497Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.L1497Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.L1459Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1497					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATGTTGAACAGAGAAGGAAG	0.473000													4	32					0	0	0.00024832	0	0
TBL1X	6907	broad.mit.edu	37	X	9660219	9660219	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:9660219C>A	ENST00000217964.7	+	9	1456	c.816C>A	c.(814-816)ctC>ctA	p.L272L	TBL1X_ENST00000536365.1_Silent_p.L221L|TBL1X_ENST00000407597.2_Silent_p.L272L|TBL1X_ENST00000380961.1_Silent_p.L221L|TBL1X_ENST00000424279.1_Silent_p.L221L	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	272					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCACCCAGCTCGTGTTGAGGC	0.522000													18	97					3.32936e-07	2.10621e-06	0.00074312	1	0
LCMT2	9836	broad.mit.edu	37	15	43621554	43621554	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:43621554C>A	ENST00000305641.5	-	1	1249	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	378					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCCCTCCTGCTCTCCAAATC	0.542000													19	40					6.94344e-10	4.78254e-09	0.00074312	1	0
SPAST	6683	broad.mit.edu	37	2	32339713	32339713	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:32339713G>C	ENST00000315285.3	+	5	814	c.689G>C	c.(688-690)gGa>gCa	p.G230A	SPAST_ENST00000345662.1_Missense_Mutation_p.G198A	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	230	Required for interaction with RTN1.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCAGAAAGTGGAGCTGTTCCA	0.358000													6	44					0	0	0.00116845	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230156	140230156	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140230156G>T	ENST00000378122.3	+	1	2800	c.2076G>T	c.(2074-2076)acG>acT	p.T692T	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.T692T|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGTGACGCTGGTGGATG	0.652000													9	76					5.4927e-09	3.69692e-08	0.000274275	1	0
MET	4233	broad.mit.edu	37	7	116371843	116371843	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:116371843C>G	ENST00000397752.3	+	3	1522	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	MET_ENST00000436117.2_Missense_Mutation_p.S441C|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.S441C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	441	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTCTTAACATCTATATCCACC	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	49					0	0	0.000157383	0	0
FIGN	55137	broad.mit.edu	37	2	164467138	164467138	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:164467138G>A	ENST00000333129.3	-	3	1518	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	402						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTAGGAAGGAGGGGTCAGA	0.473000													14	69					0	0	0.000219431	0	0
MAP2K3	5606	broad.mit.edu	37	17	21206516	21206516	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:21206516C>G	ENST00000342679.4	+	7	787	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	MAP2K3_ENST00000361818.5_Missense_Mutation_p.L151V|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L151V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	180	Protein kinase.				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								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCTGGAGCATCTGCACAGCAA	0.627000													3	18					0	0	0.000602214	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645645	7645645	+	Splice_Site	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:7645645T>C	ENST00000340209.4	+	5	873		c.e5+2		RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AAAATCGAGGTGCATGTTCAA	0.443000													6	103					0	0	0.00116845	0	0
ABI1	10006	broad.mit.edu	37	10	27060003	27060003	+	Splice_Site	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:27060003C>A	ENST00000346832.5	-	5	752		c.e5+1		ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376138.3_Splice_Site|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376170.4_Splice_Site|ABI1_ENST00000355394.4_Intron|ABI1_ENST00000376140.3_Splice_Site|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000359188.4_Splice_Site|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376134.3_Intron	NM_001178116.1	NP_001171587.1	Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGCTCTTACCTTGGCTTTT	0.383000													8	32					0.000157383	0.00095075	0.000157383	1	0
MYO3A	53904	broad.mit.edu	37	10	26414396	26414396	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:26414396G>A	ENST00000265944.5	+	19	2139	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	658	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R658K(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGGTCACTAGAGGAGAAACA	0.428000													9	93					0	0	0.000442599	0	0
MYO16	23026	broad.mit.edu	37	13	109540774	109540774	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr13:109540774C>T	ENST00000356711.2	+	14	1668	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	MYO16_ENST00000357550.2_Silent_p.L514L|MYO16_ENST00000251041.5_Silent_p.L514L|MYO16_ENST00000457511.2_Silent_p.L26L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	514	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			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)			TAAGACACCTCACCTGCAGGG	0.443000													7	70					0	0	0.000442599	0	0
MRPS18A	55168	broad.mit.edu	37	6	43648835	43648835	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:43648835C>T	ENST00000372133.3	-	2	146	c.135G>A	c.(133-135)aaG>aaA	p.K45K	MRPS18A_ENST00000372116.1_Silent_p.K45K	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	45					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			CTATAGTTGTCTTCCCTTCTT	0.473000													4	29					0	0	0.00116845	0	0
NRG3	10718	broad.mit.edu	37	10	84744862	84744862	+	Missense_Mutation	SNP	C	C	T	rs150723859		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:84744862C>T	ENST00000372142.2	+	11	1275	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	NRG3_ENST00000537893.1_Missense_Mutation_p.S181F|NRG3_ENST00000404547.1_Missense_Mutation_p.S555F|NRG3_ENST00000545131.1_Missense_Mutation_p.S181F|NRG3_ENST00000404576.2_Missense_Mutation_p.S335F|NRG3_ENST00000372141.2_Missense_Mutation_p.S531F|NRG3_ENST00000556918.1_Missense_Mutation_p.S361F	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	555					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGGTATTCATCCAGTGGTTTA	0.393000													61	180					0	0	0.000781405	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182124	140182124	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140182124G>A	ENST00000522353.2	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V448M|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.662000													15	140					0	0	0.000308642	0	0
ZNF132	7691	broad.mit.edu	37	19	58945293	58945293	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:58945293C>G	ENST00000254166.3	-	3	1918	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TATGTACTTTCTGGTGCTGGA	0.488000													9	51					0	0	0.000442599	0	0
OSBPL8	114882	broad.mit.edu	37	12	76763510	76763510	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:76763510G>C	ENST00000261183.3	-	20	2626	c.2147C>G	c.(2146-2148)gCt>gGt	p.A716G	OSBPL8_ENST00000393250.4_Missense_Mutation_p.A674G|OSBPL8_ENST00000393249.2_Missense_Mutation_p.A674G	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	716					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATCCCTGGCAGCTTGTCTTTG	0.413000													7	52					0	0	0.000157383	0	0
POLR3B	55703	broad.mit.edu	37	12	106853102	106853102	+	Silent	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:106853102A>T	ENST00000228347.4	+	22	2748	c.2526A>T	c.(2524-2526)ggA>ggT	p.G842G	POLR3B_ENST00000539066.1_Silent_p.G784G	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	842					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTTGGAAGGAAGTAATGTAC	0.378000													7	59					0	0	8.12818e-05	0	0
DCTN1	1639	broad.mit.edu	37	2	74604792	74604792	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:74604792G>C	ENST00000361874.3	-	3	658	c.341C>G	c.(340-342)tCa>tGa	p.S114*	DCTN1_ENST00000409240.1_Nonsense_Mutation_p.S97*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.S114*|DCTN1_ENST00000409868.1_Nonsense_Mutation_p.S97*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.S114*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	114					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGACTTTTGAAGCAGAAGA	0.468000													9	90					0	0	0.000673444	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405345	125405345	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:125405345C>G	ENST00000431078.1	+	13	2248	c.1884C>G	c.(1882-1884)atC>atG	p.I628M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	628	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGACAAGATCTGGACATCAG	0.547000													4	22					0	0	0.00024832	0	0
MYH2	4620	broad.mit.edu	37	17	10429036	10429036	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:10429036C>T	ENST00000245503.5	-	31	4729	c.4345G>A	c.(4345-4347)Gac>Aac	p.D1449N	MYH2_ENST00000397183.2_Missense_Mutation_p.D1449N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1449					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTTTGTCAAGGGCGGCA	0.483000													13	77					0	0	0.000219431	0	0
COL5A2	1290	broad.mit.edu	37	2	189929354	189929354	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:189929354C>A	ENST00000374866.3	-	25	1919	c.1645G>T	c.(1645-1647)Ggt>Tgt	p.G549C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	549					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGAAGAACCTACAGGACCC	0.488000													19	51					3.5997e-14	2.53874e-13	0.000295444	1	0
PSG5	5673	broad.mit.edu	37	19	43679557	43679557	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:43679557G>A	ENST00000404580.1	-	4	862	c.774C>T	c.(772-774)taC>taT	p.Y258Y	PSG5_ENST00000342951.6_Silent_p.Y258Y|PSG5_ENST00000407356.1_Silent_p.Y258Y|PSG5_ENST00000599812.1_Silent_p.Y351Y|PSG5_ENST00000366175.3_Silent_p.Y258Y|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	258	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGCAGGACAAGTAGAGGTTTT	0.458000													58	316					0	0	0.000781405	0	0
MCTP1	79772	broad.mit.edu	37	5	94224613	94224613	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:94224613G>A	ENST00000515393.1	-	12	1903	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V	MCTP1_ENST00000429576.2_Missense_Mutation_p.A368V|MCTP1_ENST00000505078.1_Missense_Mutation_p.A151V|MCTP1_ENST00000312216.8_Missense_Mutation_p.A414V|MCTP1_ENST00000505208.1_Missense_Mutation_p.A414V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	635	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAACCCTTCCGCTCTGATGAC	0.443000													10	77					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179431323	179431323	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:179431323G>C	ENST00000589042.1	-	326	79760	c.79536C>G	c.(79534-79536)atC>atG	p.I26512M	TTN_ENST00000460472.2_Missense_Mutation_p.I17447M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I17639M|TTN_ENST00000359218.5_Missense_Mutation_p.I17572M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I24871M|TTN_ENST00000342992.6_Missense_Mutation_p.I23944M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24871							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I23942I(1)|p.I17572I(1)|p.I17639I(1)|p.I17447I(1)|p.I23944I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCCATCATAGATGGGTTTAC	0.443000													29	220					0	0	0.00127121	0	0
COL11A1	1301	broad.mit.edu	37	1	103468348	103468348	+	Splice_Site	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:103468348C>T	ENST00000358392.2	-	22	2352		c.e22-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGCCATACCCTGCAATGAAG	0.343000													5	27					0	0	0.000442599	0	0
GIPC3	126326	broad.mit.edu	37	19	3586648	3586648	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:3586648G>A	ENST00000322315.5	+	2	426	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	127	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCATCACGGACAACGGGG	0.642000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	85					0	0	0.000720815	0	0
SPRED1	161742	broad.mit.edu	37	15	38643583	38643583	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:38643583A>C	ENST00000299084.4	+	7	1913	c.1053A>C	c.(1051-1053)aaA>aaC	p.K351N		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	351	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTAGGGGAAAATGTCAGGATG	0.393000									Legius syndrome				8	80					0	0	0.000274275	0	0
KIAA1109	84162	broad.mit.edu	37	4	123269788	123269788	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:123269788C>T	ENST00000264501.4	+	77	13569	c.13196C>T	c.(13195-13197)cCa>cTa	p.P4399L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4399L			Q2LD37	K1109_HUMAN	KIAA1109	4399					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAGGGACCCCATGGGAAACA	0.328000													14	33					0	0	0.00185496	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820400	35820400	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:35820400G>A	ENST00000399989.1	+	2	366	c.87G>A	c.(85-87)caG>caA	p.Q29Q	MAGEB16_ENST00000399985.1_Silent_p.Q29Q|MAGEB16_ENST00000399992.1_Silent_p.Q61Q|MAGEB16_ENST00000399987.1_Silent_p.Q29Q|MAGEB16_ENST00000399988.1_Silent_p.Q29Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	29										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTTGCACAGGTCTCCAAGG	0.557000													7	27					0	0	8.12818e-05	0	0
PSG5	5673	broad.mit.edu	37	19	43679469	43679469	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:43679469T>C	ENST00000404580.1	-	4	950	c.862A>G	c.(862-864)Atc>Gtc	p.I288V	PSG5_ENST00000342951.6_Missense_Mutation_p.I288V|PSG5_ENST00000407356.1_Missense_Mutation_p.I288V|PSG5_ENST00000599812.1_Missense_Mutation_p.I381V|PSG5_ENST00000366175.3_Missense_Mutation_p.I288V|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	288	Ig-like C2-type 2.			I -> M (in Ref. 3; AAA36514).	female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATTTGGGGGATAGAGAGCTTT	0.448000													29	369					0	0	0.00127121	0	0
CHD6	84181	broad.mit.edu	37	20	40161984	40161984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:40161984C>A	ENST00000373233.3	-	3	436	c.259G>T	c.(259-261)Gga>Tga	p.G87*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.G87*|CHD6_ENST00000373222.3_Nonsense_Mutation_p.G122*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	87	Poly-Gly.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTACCTCCTCCTCCACTGTCC	0.507000													15	86					1.05317e-09	7.18691e-09	0.000219431	1	0
MAN2A1	4124	broad.mit.edu	37	5	109124722	109124722	+	Silent	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:109124722T>G	ENST00000261483.4	+	11	2900	c.1848T>G	c.(1846-1848)tcT>tcG	p.S616S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	616					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CATACGACTCTTACTCTCCTG	0.333000													6	69					0	0	0.000673444	0	0
OSR1	130497	broad.mit.edu	37	2	19553422	19553422	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:19553422C>A	ENST00000536433.1	-	1	3255	c.145G>T	c.(145-147)Gct>Tct	p.A49S	OSR1_ENST00000272223.2_Missense_Mutation_p.A49S			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	49					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGTGCACAGCGTGCAACGCG	0.612000													5	19					1.23904e-05	7.64161e-05	0.000602214	1	0
PBXIP1	57326	broad.mit.edu	37	1	154919177	154919177	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:154919177G>A	ENST00000368463.3	-	10	1044	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R296W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R170W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R152W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	325					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGAGCCCGCTGGAAGGCT	0.672000													16	13					0	0	0.000422831	0	0
ITGAL	3683	broad.mit.edu	37	16	30490755	30490755	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:30490755G>A	ENST00000356798.6	+	6	729	c.549G>A	c.(547-549)atG>atA	p.M183I	ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	183	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGGATGTGATGAAGAAACTCA	0.408000													5	36					0	0	0.00116845	0	0
ARMC5	79798	broad.mit.edu	37	16	31477721	31477721	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:31477721C>G	ENST00000408912.3	+	8	2921	c.2604C>G	c.(2602-2604)ttC>ttG	p.F868L	ARMC5_ENST00000268314.4_Missense_Mutation_p.F773L|ARMC5_ENST00000412665.2_Missense_Mutation_p.F417L|ARMC5_ENST00000563544.1_Missense_Mutation_p.F773L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.F805L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	773							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTCCCCTTTCTTCCGGGCCC	0.677000													3	19					0	0	6.4e-05	0	0
EYS	346007	broad.mit.edu	37	6	66205196	66205196	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:66205196G>T	ENST00000503581.1	-	4	645	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EYS_ENST00000370621.3_Silent_p.P36P|EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	36					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATATGATGAGGGTTGTGGAT	0.388000													25	86					7.92952e-12	5.53939e-11	0.000586117	1	0
BAI3	577	broad.mit.edu	37	6	70071370	70071370	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:70071370A>G	ENST00000370598.1	+	29	5026	c.4205A>G	c.(4204-4206)gAa>gGa	p.E1402G	BAI3_ENST00000238918.8_Missense_Mutation_p.E608G|BAI3_ENST00000546190.1_Missense_Mutation_p.E366G	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1402					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAAGAAGTGAAACTGGATCA	0.373000													12	46					0	0	0.000219431	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612782	44612782	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:44612782C>T	ENST00000273320.3	+	6	2609	c.2180C>T	c.(2179-2181)gCc>gTc	p.A727V	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A727V	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TGTGGGAAAGCCTTTAGTCAG	0.453000													15	95					0	0	0.000308642	0	0
AKAP6	9472	broad.mit.edu	37	14	33014499	33014499	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:33014499A>G	ENST00000280979.4	+	4	810	c.640A>G	c.(640-642)Aat>Gat	p.N214D	AKAP6_ENST00000557272.1_Missense_Mutation_p.N214D|AKAP6_ENST00000557354.1_Missense_Mutation_p.N214D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	214					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTTCTCAAAATTACTTGTC	0.438000													13	168					0	0	0.00136819	0	0
ATP10B	23120	broad.mit.edu	37	5	159992643	159992643	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:159992643C>T	ENST00000327245.5	-	26	5049	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1401					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCACATCTCTGTTCGTGGA	0.547000													14	106					0	0	0.000219431	0	0
UBE3A	7337	broad.mit.edu	37	15	25599501	25599501	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:25599501T>A	ENST00000232165.3	-	11	3009	c.2354_splice	c.e11+1	p.R785_splice	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Splice_Site_p.R765_splice|UBE3A_ENST00000566215.1_Splice_Site_p.R765_splice|UBE3A_ENST00000428984.2_Splice_Site_p.R765_splice|UBE3A_ENST00000397954.2_Splice_Site_p.R788_splice	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	788	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTACCTCACCTAATCAGAACA	0.383000													5	29					0	0	0.00116845	0	0
KRT80	144501	broad.mit.edu	37	12	52565271	52565271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:52565271G>A	ENST00000394815.2	-	9	1367	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	424	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTCTTCTTTCGGGAGGGGGCC	0.562000													13	72					0	0	0.00136819	0	0
PLSCR1	5359	broad.mit.edu	37	3	146246609	146246609	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:146246609C>A	ENST00000342435.4	-	4	514	c.104G>T	c.(103-105)gGa>gTa	p.G35V	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.G28V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	35					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GCCACTATATCCTGGAGGTCC	0.498000													8	28					1.76689e-08	1.15751e-07	0.000442599	1	0
PCDH15	65217	broad.mit.edu	37	10	55755520	55755520	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:55755520C>T	ENST00000373965.2	-	22	3172	c.2778G>A	c.(2776-2778)atG>atA	p.M926I	PCDH15_ENST00000409834.1_Missense_Mutation_p.M530I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M919I|PCDH15_ENST00000395433.1_Missense_Mutation_p.M897I|PCDH15_ENST00000395430.1_Missense_Mutation_p.M919I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M926I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.M919I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.M882I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M924I|PCDH15_ENST00000320301.6_Missense_Mutation_p.M919I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M919I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.M848I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	919	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATAATCATTCATATCCTGTA	0.393000										HNSCC(58;0.16)			10	22					0	0	0.000442599	0	0
COL15A1	1306	broad.mit.edu	37	9	101812151	101812151	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:101812151C>A	ENST00000375001.3	+	30	3301	c.2878C>A	c.(2878-2880)Ccc>Acc	p.P960T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	960	Nonhelical region 6 (NC6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCCAATACCCGTCCGACC	0.493000													11	97					0.00136819	0.00800285	0.00136819	1	0
DCAF15	90379	broad.mit.edu	37	19	14065430	14065430	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:14065430A>G	ENST00000254337.6	+	3	344	c.323A>G	c.(322-324)cAt>cGt	p.H108R		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	108										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TACATCTACCATCTGTACTGG	0.547000													9	57					0	0	0.000673444	0	0
VAMP4	8674	broad.mit.edu	37	1	171679944	171679944	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:171679944G>C	ENST00000236192.7	-	5	561	c.175C>G	c.(175-177)Caa>Gaa	p.Q59E	VAMP4_ENST00000415773.1_Missense_Mutation_p.Q58E|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.Q58E	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	59	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCATCCACTTGATTCTGAACA	0.303000													6	105					0	0	0.000157383	0	0
MCHR2	84539	broad.mit.edu	37	6	100403872	100403872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:100403872C>A	ENST00000281806.2	-	2	466	c.152G>T	c.(151-153)gGc>gTc	p.G51V	MCHR2_ENST00000369212.1_Missense_Mutation_p.G51V|MCHR2_ENST00000445970.1_Missense_Mutation_p.G51V	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	51						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGGATGTTGCCAACCAGCCC	0.383000													10	41					1.76689e-08	1.15751e-07	0.000442599	1	0
OR4C16	219428	broad.mit.edu	37	11	55339900	55339900	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:55339900C>A	ENST00000314634.3	+	1	297	c.297C>A	c.(295-297)gtC>gtA	p.V99V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGATCCAAGTCTTTTCATCCC	0.473000													32	206					6.00712e-18	4.34044e-17	0.000409698	1	0
SPTBN2	6712	broad.mit.edu	37	11	66460088	66460088	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:66460088C>T	ENST00000533211.1	-	26	5440	c.5109G>A	c.(5107-5109)ctG>ctA	p.L1703L	SPTBN2_ENST00000309996.2_Silent_p.L1703L|SPTBN2_ENST00000529997.1_Silent_p.L1703L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1703					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGTCATCCAGCTCGCGGC	0.677000													5	37					0	0	0.000602214	0	0
CER1	9350	broad.mit.edu	37	9	14720260	14720260	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:14720260G>A	ENST00000380911.3	-	2	676	c.632C>T	c.(631-633)cCt>cTt	p.P211L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	211	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACTTGGCAGGCAAACAGTG	0.522000													19	57					0	0	0.000958276	0	0
CLK2	1196	broad.mit.edu	37	1	155240629	155240629	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:155240629C>T	ENST00000368361.4	-	2	455	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	CLK2_ENST00000361168.5_Missense_Mutation_p.R47Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R47Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R47Q			P49760	CLK2_HUMAN	CDC-like kinase 2	47						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTCCTCTCGCCGACGCCG	0.527000								Other conserved DNA damage response genes					61	153					0	0	0.000781405	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795254	142795254	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:142795254C>A	ENST00000370498.1	-	2	1177	c.424G>T	c.(424-426)Gac>Tac	p.D142Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAGTCCAGGTCTTCG	0.512000													88	306					1.67448e-56	1.25288e-55	0.000781405	1	0
SHANK2	22941	broad.mit.edu	37	11	70332188	70332188	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:70332188C>A	ENST00000338508.4	-	32	4212	c.4213G>T	c.(4213-4215)Gat>Tat	p.D1405Y	SHANK2_ENST00000423696.2_Missense_Mutation_p.D1025Y|SHANK2_ENST00000449833.2_Missense_Mutation_p.D809Y|SHANK2_ENST00000409161.1_Missense_Mutation_p.D808Y			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1025					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAAATAAAATCCTCATCCAAG	0.552000													10	66					1.08611e-07	6.96053e-07	0.000978159	1	0
ASXL3	80816	broad.mit.edu	37	18	31318481	31318481	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr18:31318481G>A	ENST00000269197.5	+	11	1113	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATCTGTGAAGCTCACTACTG	0.448000													12	26					0	0	0.00136819	0	0
GGNBP2	79893	broad.mit.edu	37	17	34923616	34923616	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:34923616G>A	ENST00000304718.4	+	6	957		c.e6+1			NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAAAACACAGGTAAGTCTGAT	0.408000													5	23					0	0	0.000602214	0	0
STAU1	6780	broad.mit.edu	37	20	47768130	47768130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:47768130C>A	ENST00000371828.3	-	5	743	c.256G>T	c.(256-258)Gag>Tag	p.E86*	STAU1_ENST00000340954.7_Nonsense_Mutation_p.E86*|STAU1_ENST00000347458.5_Nonsense_Mutation_p.E86*|STAU1_ENST00000360426.4_Nonsense_Mutation_p.E86*|STAU1_ENST00000371792.1_Nonsense_Mutation_p.E86*|STAU1_ENST00000371856.2_Nonsense_Mutation_p.E167*|STAU1_ENST00000371802.1_Nonsense_Mutation_p.E86*	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	167	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCAGCCTCTCTGGCAGGGGC	0.547000													15	77					1.15088e-07	7.34369e-07	0.000422831	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130797726	130797726	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:130797726G>C	ENST00000509018.1	-	19	2741	c.2536C>G	c.(2536-2538)Caa>Gaa	p.Q846E	FNIP1_ENST00000514667.1_Missense_Mutation_p.Q896E|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Q561E|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q846E|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Q846E|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Q851E|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Q846E	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	846					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACTAGTTCTTGAGCATCTTCA	0.338000													5	35					0	0	0.000602214	0	0
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468000										HNSCC(75;0.22)			12	82					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179439646	179439646	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:179439646T>A	ENST00000589042.1	-	326	71437	c.71213A>T	c.(71212-71214)gAa>gTa	p.E23738V	TTN_ENST00000460472.2_Missense_Mutation_p.E14673V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14865V|TTN_ENST00000359218.5_Missense_Mutation_p.E14798V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E22097V|TTN_ENST00000342992.6_Missense_Mutation_p.E21170V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22097	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGAAACTTCATCAAATTT	0.448000													5	19					0	0	0.00116845	0	0
RAG1	5896	broad.mit.edu	37	11	36597777	36597777	+	Silent	SNP	C	C	A	rs121918570		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:36597777C>A	ENST00000299440.5	+	2	3035	c.2923C>A	c.(2923-2925)Cgg>Agg	p.R975R		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	975			R -> Q (in OS).|R -> W (in CHIDG; reduced recombination activity).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAGGCGCTTCCGGAAAATGAA	0.473000									Familial Hemophagocytic Lymphohistiocytosis				14	76					2.32078e-09	1.57642e-08	0.000308642	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64589620	64589620	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:64589620C>A	ENST00000498707.1	-	25	4067	c.3725G>T	c.(3724-3726)tGg>tTg	p.W1242L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W1214L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1242	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGGCCTTCCATTGCCCACA	0.557000													29	72					1.62565e-12	1.14105e-11	0.000409698	1	0
FNBP4	23360	broad.mit.edu	37	11	47754218	47754218	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:47754218C>G	ENST00000263773.5	-	11	1703	c.1691G>C	c.(1690-1692)cGa>cCa	p.R564P	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	564										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTGCAATTCGAGTCTAGAA	0.398000													5	30					0	0	0.00116845	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945569	16945569	+	RNA	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:16945569C>A	ENST00000412962.1	-	0	1950																											CTGACAGCGCCATCTTCTCAG	0.622000													35	429					1.57351e-24	1.15391e-23	0.000692331	1	0
DFNA5	1687	broad.mit.edu	37	7	24749972	24749972	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:24749972C>T	ENST00000545231.1	-	8	1391	c.241G>A	c.(241-243)Gag>Aag	p.E81K	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.E245K|DFNA5_ENST00000409970.1_Missense_Mutation_p.E81K|DFNA5_ENST00000342947.3_Missense_Mutation_p.E245K|DFNA5_ENST00000419307.1_Missense_Mutation_p.E81K			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	245					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTTGTTCTCGAAGCCACCT	0.488000													13	117					0	0	0.000219431	0	0
PAN2	9924	broad.mit.edu	37	12	56712094	56712094	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:56712094G>A	ENST00000425394.2	-	25	3877	c.3501C>T	c.(3499-3501)ctC>ctT	p.L1167L	PAN2_ENST00000257931.5_Silent_p.L1166L|PAN2_ENST00000440411.3_Silent_p.L1163L|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Silent_p.L1167L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1167					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AAAGACCCTTGAGCACCTTGT	0.512000													25	112					0	0	0.000878237	0	0
C6	729	broad.mit.edu	37	5	41203279	41203279	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:41203279C>A	ENST00000263413.3	-	2	318	c.54G>T	c.(52-54)aaG>aaT	p.K18N	C6_ENST00000337836.5_Missense_Mutation_p.K18N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	18					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGCTTGGCCCTTGTTGATCA	0.493000													60	161					5.82218e-30	4.31251e-29	0.000781405	1	0
MUC4	4585	broad.mit.edu	37	3	195498625	195498625	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:195498625G>C	ENST00000463781.3	-	5	13599	c.13140C>G	c.(13138-13140)aaC>aaG	p.N4380K	MUC4_ENST00000349607.4_Missense_Mutation_p.N93K|MUC4_ENST00000346145.4_Missense_Mutation_p.N144K|MUC4_ENST00000475231.1_Missense_Mutation_p.N4380K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1137					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGGGAGTGGGTTGGGGTAGG	0.562000													6	60					0	0	0.000157383	0	0
DNAH10	196385	broad.mit.edu	37	12	124274575	124274575	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:124274575C>T	ENST00000409039.3	+	11	1564	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	513	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGCCTAGTCACCCCCATGG	0.468000													19	152					0	0	0.00188189	0	0
NOBOX	135935	broad.mit.edu	37	7	144098962	144098962	+	Splice_Site	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:144098962C>G	ENST00000467773.1	-	3	291	c.292_splice	c.e3+1	p.G98_splice	NOBOX_ENST00000483238.1_Splice_Site_p.G98_splice|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	98					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGTACTCACCCCTTGTGAGT	0.453000													5	15					0	0	0.00116845	0	0
YEATS4	8089	broad.mit.edu	37	12	69783951	69783951	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:69783951G>C	ENST00000247843.2	+	7	809	c.539G>C	c.(538-540)aGa>aCa	p.R180T	YEATS4_ENST00000548020.1_Missense_Mutation_p.R126T	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	180	Interaction with MLLT10.|Interaction with TACC1.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GTGAAAACCAGAGAAAAATTA	0.294000													5	28					0	0	0.000602214	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531646	84531646	+	RNA	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:84531646C>A	ENST00000527857.1	+	0	1668					NR_026851.1																						ATCTATATCCCATGAATCCCC	0.493000													6	61					0.00116845	0.00686171	0.00116845	1	0
ZNF423	23090	broad.mit.edu	37	16	49671869	49671869	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:49671869C>A	ENST00000561648.1	-	4	1247	c.1194G>T	c.(1192-1194)cgG>cgT	p.R398R	ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000535559.1_Silent_p.R281R|ZNF423_ENST00000563137.2_Silent_p.R338R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	398					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCCGTCATCCCGCATCTTCT	0.632000													7	42					8.12818e-05	0.000493043	8.12818e-05	1	0
PLCB4	5332	broad.mit.edu	37	20	9376236	9376236	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:9376236A>G	ENST00000378501.2	+	16	1496	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E494G|PLCB4_ENST00000378473.3_Missense_Mutation_p.E494G|PLCB4_ENST00000278655.4_Missense_Mutation_p.E494G|PLCB4_ENST00000414679.2_Missense_Mutation_p.E494G|PLCB4_ENST00000378493.1_Missense_Mutation_p.E494G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	494					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACATCTTAGAGGACGATAAT	0.413000													9	63					0	0	0.000673444	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761372	92761372	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:92761372C>T	ENST00000318238.4	-	5	5129	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1305K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1305K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1305										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGAAAAGTTCTGTGTATTTC	0.358000													9	73					0	0	0.000274275	0	0
TUBB8	347688	broad.mit.edu	37	10	93320	93320	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:93320T>A	ENST00000447903.2	-	4	1111	c.796A>T	c.(796-798)Agc>Tgc	p.S266C	TUBB8_ENST00000309812.4_Missense_Mutation_p.S338C			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	338					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AAGTAACTGCTGTTCTTATCT	0.527000													41	103					0	0	0.00148497	0	0
SAAL1	113174	broad.mit.edu	37	11	18110877	18110877	+	Splice_Site	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:18110877C>A	ENST00000524803.1	-	7	819	c.770_splice	c.e7+1	p.R257_splice	SAAL1_ENST00000529318.1_Splice_Site_p.R257_splice|SAAL1_ENST00000300013.4_Splice_Site_p.R257_splice			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	257					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GCTCACCTACCGTACTTGTTT	0.433000													14	56					1.05317e-09	7.18691e-09	0.000219431	1	0
GGT6	124975	broad.mit.edu	37	17	4463036	4463036	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:4463036G>A	ENST00000301395.3	-	2	219	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	GGT6_ENST00000381550.3_Missense_Mutation_p.P54S|GGT6_ENST00000574154.1_Missense_Mutation_p.P54S|GGT6_ENST00000573591.1_5'UTR	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	54					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAGGTTCCGGGCAGCCCGCCA	0.657000													7	17					0	0	8.12818e-05	0	0
DDX50	79009	broad.mit.edu	37	10	70706252	70706252	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:70706252G>A	ENST00000373585.3	+	15	2187	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	694	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGGCCGGTCAGGTGGTCGATC	0.498000													6	41					0	0	0.00116845	0	0
MTPAP	55149	broad.mit.edu	37	10	30615549	30615549	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:30615549G>A	ENST00000358107.4	-	6	1185	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	MTPAP_ENST00000263063.3_Silent_p.L266L|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	266					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATTCCATCAGAAAATTTCCT	0.338000													15	97					0	0	0.000308642	0	0
CAPN13	92291	broad.mit.edu	37	2	30985980	30985980	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:30985980G>A	ENST00000295055.8	-	7	918	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	CAPN13_ENST00000534090.2_Missense_Mutation_p.L248F|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	248	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGGCATGGAGACTCACCAGC	0.522000													5	19					0	0	0.00116845	0	0
FAT1	2195	broad.mit.edu	37	4	187521447	187521447	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:187521447C>G	ENST00000441802.2	-	22	11917	c.11708G>C	c.(11707-11709)aGc>aCc	p.S3903T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3903	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GACCTGAATGCTCTGAACAGA	0.478000										HNSCC(5;0.00058)			7	19					0	0	0.000157383	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817373	200817373	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:200817373A>G	ENST00000358823.2	+	11	1746	c.1476A>G	c.(1474-1476)atA>atG	p.I492M	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.I503M|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.I476M	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	503						cytoplasm|microtubule	protein binding										AACTTAATATAGATTCTCACA	0.343000													36	72					0	0	0.000953801	0	0
XIRP2	129446	broad.mit.edu	37	2	167760039	167760039	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:167760039G>T	ENST00000409195.1	+	2	136	c.47G>T	c.(46-48)tGg>tTg	p.W16L	XIRP2_ENST00000420519.1_Missense_Mutation_p.W16L|XIRP2_ENST00000409756.2_Missense_Mutation_p.W16L|XIRP2_ENST00000409043.1_Missense_Mutation_p.W16L|XIRP2_ENST00000295237.9_Missense_Mutation_p.W16L|XIRP2_ENST00000409728.1_Missense_Mutation_p.W16L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			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						AGGCAGAAATGGGAATCTTGT	0.473000													5	49					0.000602214	0.00356492	0.000602214	1	0
RNF216	54476	broad.mit.edu	37	7	5760666	5760666	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:5760666C>T	ENST00000425013.2	-	9	1695	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	RNF216_ENST00000389902.3_Missense_Mutation_p.E548K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	491					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTTCCTACCTCTGCCATCTCT	0.443000													10	163					0	0	0.000673444	0	0
CCDC77	84318	broad.mit.edu	37	12	541095	541095	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:541095G>C	ENST00000239830.4	+	8	826	c.647G>C	c.(646-648)aGa>aCa	p.R216T	CCDC77_ENST00000540180.1_Missense_Mutation_p.R184T|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.R184T|CCDC77_ENST00000422000.1_Missense_Mutation_p.R184T	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	216						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CATTACCAAAGAGACATACAG	0.378000													8	50					0	0	0.000673444	0	0
NKAPL	222698	broad.mit.edu	37	6	28227575	28227575	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:28227575G>T	ENST00000343684.3	+	1	478	c.426G>T	c.(424-426)aaG>aaT	p.K142N		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	142										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGTCTCCAAAGTTCCCTCAGC	0.512000													20	172					4.30721e-22	3.14298e-21	0.00152264	1	0
SAMD8	142891	broad.mit.edu	37	10	76910337	76910337	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:76910337A>G	ENST00000542569.1	+	2	154	c.51A>G	c.(49-51)gtA>gtG	p.V17V	SAMD8_ENST00000372687.3_Silent_p.V17V|SAMD8_ENST00000372690.3_Silent_p.V80V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	17	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAAGCATGTAGCTGTGTGGC	0.433000													20	56					0	0	0.00121646	0	0
ELAVL2	1993	broad.mit.edu	37	9	23693456	23693456	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:23693456C>T	ENST00000397312.2	-	6	1016	c.742G>A	c.(742-744)Gga>Aga	p.G248R	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G248R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G248R|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G277R|ELAVL2_ENST00000223951.6_Intron	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	248					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTCTTTACTCCATAAGCCATA	0.378000													12	83					0	0	0.00185496	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356919	104356919	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:104356919C>T	ENST00000374806.1	-	1	364	c.294G>A	c.(292-294)gcG>gcA	p.A98A	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	95	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AAATGCTGAACGCAAACCTCA	0.537000													16	88					0	0	0.000422831	0	0
ATP9A	10079	broad.mit.edu	37	20	50245520	50245520	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:50245520T>A	ENST00000338821.5	-	16	2024	c.1761_splice	c.e16+1	p.E587_splice	ATP9A_ENST00000311637.5_Splice_Site_p.E451_splice|ATP9A_ENST00000402822.1_Splice_Site_p.E466_splice	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	587					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CACACTTACCTCTTCCTCCAA	0.483000													13	127					0	0	0.00185496	0	0
CCT6A	908	broad.mit.edu	37	7	56122154	56122154	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:56122154C>G	ENST00000275603.4	+	3	513	c.294C>G	c.(292-294)atC>atG	p.I98M	CCT6A_ENST00000335503.3_Intron|CCT6A_ENST00000540286.1_Missense_Mutation_p.I67M	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	98					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGTCCTAATCATTGGAGAGC	0.383000													16	183					0	0	0.00074312	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272321	43272321	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr22:43272321C>T	ENST00000263246.3	-	10	1371	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	PACSIN2_ENST00000402229.1_Silent_p.K390K|PACSIN2_ENST00000337959.4_Silent_p.K349K|PACSIN2_ENST00000403744.3_Silent_p.K390K|PACSIN2_ENST00000407585.1_Silent_p.K349K|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	390					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				AGCTCTGGGTCTTCTCGTAGC	0.627000													4	39					0	0	0.000602214	0	0
GPR158	57512	broad.mit.edu	37	10	25887907	25887907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:25887907G>T	ENST00000376351.3	+	11	3711	c.3352G>T	c.(3352-3354)Gaa>Taa	p.E1118*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1118						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E1118K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGGGCAGAGCGAAGAACTGCC	0.473000													10	92					1.76689e-08	1.15751e-07	0.000442599	1	0
DEFB131	644414	broad.mit.edu	37	4	9452085	9452085	+	Splice_Site	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:9452085G>A	ENST00000334879.1	+	2	58		c.e2-1			NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131						defense response to bacterium	extracellular region				lung(2)	2						TCTTTTTAAAGCCAGAAGCTT	0.279000													12	11					0	0	0.000978159	0	0
EPHA6	285220	broad.mit.edu	37	3	97311539	97311539	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:97311539C>A	ENST00000389672.5	+	12	2508	c.2470C>A	c.(2470-2472)Cca>Aca	p.P824T	EPHA6_ENST00000502694.1_Missense_Mutation_p.P216T|EPHA6_ENST00000514100.1_Missense_Mutation_p.P216T|EPHA6_ENST00000442602.2_Missense_Mutation_p.P190T	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	729	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P730S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCCCGCATCCAGTGCCAGG	0.517000													11	21					7.03913e-09	4.69487e-08	0.00136819	1	0
F13A1	2162	broad.mit.edu	37	6	6267034	6267034	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:6267034G>T	ENST00000264870.3	-	4	593	c.328C>A	c.(328-330)Cca>Aca	p.P110T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	110					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			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)	TTCTCCTGTGGGTAGCGACCT	0.453000													20	78					3.10358e-05	0.000189821	0.000295444	1	0
DNAH9	1770	broad.mit.edu	37	17	11631181	11631181	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:11631181G>T	ENST00000262442.3	+	28	5824	c.5756G>T	c.(5755-5757)gGc>gTc	p.G1919V	DNAH9_ENST00000454412.2_Missense_Mutation_p.G1919V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1919	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTGCCTGGGGCTGCTTTGAT	0.483000													8	42					1.33987e-11	9.31589e-11	0.000673444	1	0
BAI3	577	broad.mit.edu	37	6	69703681	69703681	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:69703681G>T	ENST00000370598.1	+	11	2577	c.1756G>T	c.(1756-1758)Ggg>Tgg	p.G586W		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	586					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G586R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTGCTAAGGGGCAGCGAAT	0.403000													70	186					4.75426e-39	3.53928e-38	0.000781405	1	0
SSR3	6747	broad.mit.edu	37	3	156272859	156272859	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:156272859G>A	ENST00000265044.2	-	1	114	c.20C>T	c.(19-21)tCc>tTc	p.S7F	SSR3_ENST00000467789.1_Missense_Mutation_p.S7F|SSR3_ENST00000476217.1_Missense_Mutation_p.S7F	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	7					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGCTGTTTGGAGCTGCCTTT	0.632000													6	47					0	0	8.12818e-05	0	0
FAM135B	51059	broad.mit.edu	37	8	139323096	139323096	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:139323096C>G	ENST00000395297.1	-	3	315	c.145G>C	c.(145-147)Gct>Cct	p.A49P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	49										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)			GTCTGCCCAGCGATGGAGGCA	0.557000										HNSCC(54;0.14)			3	79					0	0	0.00024832	0	0
FAM63B	54629	broad.mit.edu	37	15	59144100	59144100	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr15:59144100C>G	ENST00000559228.1	+	8	1755	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	FAM63B_ENST00000450403.2_Missense_Mutation_p.S558C			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	558	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGACGGGCTTCTCAATACTAT	0.453000													11	54					0	0	0.000978159	0	0
KCNH8	131096	broad.mit.edu	37	3	19575178	19575178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:19575178C>T	ENST00000328405.2	+	16	3177	c.2911C>T	c.(2911-2913)Caa>Taa	p.Q971*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	971	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAGCAGCCCCCAACGAACTGG	0.498000													19	69					0	0	0.000958276	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55605745	55605745	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:55605745G>A	ENST00000263433.3	-	13	1666	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R477C|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R551C	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	551						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGCATGAGACGGGAGCGAGCT	0.652000													9	71					0	0	0.000442599	0	0
C10orf118	55088	broad.mit.edu	37	10	115922598	115922598	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:115922598C>G	ENST00000369287.3	-	2	696	c.430G>C	c.(430-432)Gac>Cac	p.D144H	C10orf118_ENST00000369286.1_Missense_Mutation_p.D144H|C10orf118_ENST00000369285.3_Missense_Mutation_p.D144H	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	144										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTGGTGCAGTCTGTATCATAG	0.353000													13	101					0	0	0.00185496	0	0
MED16	10025	broad.mit.edu	37	19	873486	873486	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:873486T>A	ENST00000312090.6	-	11	2018	c.1868A>T	c.(1867-1869)gAc>gTc	p.D623V	MED16_ENST00000325464.1_Missense_Mutation_p.D623V|MED16_ENST00000395808.3_Missense_Mutation_p.D623V|MED16_ENST00000269814.4_Missense_Mutation_p.D623V|MED16_ENST00000589119.1_Missense_Mutation_p.D623V			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	623					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCACGAAGTCGCCCACCCA	0.612000													19	38					0	0	0.00152264	0	0
BRWD3	254065	broad.mit.edu	37	X	79932261	79932261	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:79932261T>A	ENST00000373275.4	-	41	5472	c.5256A>T	c.(5254-5256)caA>caT	p.Q1752H		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1752										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCCTCCTGCCTTGGTTTCTTG	0.418000													12	59					0	0	0.00136819	0	0
GALNT15	117248	broad.mit.edu	37	3	16237379	16237379	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:16237379G>T	ENST00000339732.5	+	2	1155	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	GALNT15_ENST00000437509.1_Missense_Mutation_p.V218L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CCTCGACACAGTGCCCAGGGC	0.617000													6	49					3.59834e-05	0.000219171	0.00116845	1	0
SCAF8	22828	broad.mit.edu	37	6	155095170	155095170	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:155095170G>A	ENST00000367178.3	+	2	654	c.78G>A	c.(76-78)atG>atA	p.M26I	SCAF8_ENST00000367186.4_Missense_Mutation_p.M92I|SCAF8_ENST00000417268.1_Missense_Mutation_p.M26I|SCAF8_ENST00000461219.1_3'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	26	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AAGCGAAAATGACCCAAATTA	0.318000													30	74					0	0	0.000692331	0	0
KIF13A	63971	broad.mit.edu	37	6	17834252	17834252	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:17834252C>T	ENST00000378814.5	-	12	1205	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	KIF13A_ENST00000259711.6_Silent_p.L402L|KIF13A_ENST00000378816.5_Silent_p.L402L|KIF13A_ENST00000378826.2_Silent_p.L402L|KIF13A_ENST00000378843.2_Silent_p.L402L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	402					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCTTTTATCAGCTTTTCAG	0.378000													5	31					0	0	0.000602214	0	0
FCGBP	8857	broad.mit.edu	37	19	40366480	40366480	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:40366480G>C	ENST00000221347.6	-	30	13761	c.13754C>G	c.(13753-13755)tCa>tGa	p.S4585*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4585	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAGAGCCCTGAGGTTGTGGT	0.672000													7	65					0	0	0.000157383	0	0
ACVRL1	94	broad.mit.edu	37	12	52314550	52314550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:52314550C>G	ENST00000550683.1	+	9	1528	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S462*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	462	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGGTCCTCTCAGGCCTAGCT	0.582000													4	27					0	0	0.000602214	0	0
THADA	63892	broad.mit.edu	37	2	43797537	43797537	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:43797537T>C	ENST00000403856.1	-	15	2324	c.2177A>G	c.(2176-2178)cAg>cGg	p.Q726R	THADA_ENST00000415080.2_Missense_Mutation_p.Q436R|THADA_ENST00000405975.2_Missense_Mutation_p.Q726R|THADA_ENST00000405006.4_Missense_Mutation_p.Q726R|THADA_ENST00000330266.7_Missense_Mutation_p.Q436R|THADA_ENST00000404790.1_Missense_Mutation_p.Q726R|THADA_ENST00000402360.2_Missense_Mutation_p.Q726R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	726							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTATACTGCTGTAAAGAAAC	0.313000													6	44					0	0	0.000274275	0	0
MUC4	4585	broad.mit.edu	37	3	195498624	195498624	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:195498624G>A	ENST00000463781.3	-	5	13600	c.13141C>T	c.(13141-13143)Cca>Tca	p.P4381S	MUC4_ENST00000349607.4_Missense_Mutation_p.P94S|MUC4_ENST00000346145.4_Missense_Mutation_p.P145S|MUC4_ENST00000475231.1_Missense_Mutation_p.P4381S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1138					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGGGAGTGGGTTGGGGTAG	0.557000													6	59					0	0	0.000157383	0	0
OR13G1	441933	broad.mit.edu	37	1	247836182	247836182	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:247836182C>A	ENST00000359688.2	-	1	183	c.162G>T	c.(160-162)acG>acT	p.T54T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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;0.017)			CATACATGGGCGTATGCAAGG	0.418000													10	34					2.17888e-05	0.000133819	0.000442599	1	0
IGLV2-33	28811	broad.mit.edu	37	22	22931143	22931143	+	RNA	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr22:22931143C>G	ENST00000390302.2	+	0	396																											AGCTTATATTCAAGTAGTTAC	0.498000													18	166					0	0	0.000958276	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445956	10445956	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:10445956C>T	ENST00000326756.3	-	3	2435	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TATCTTTCTGCGCAACAGTTC	0.443000													34	71					0	0	0.00111076	0	0
ALS2	57679	broad.mit.edu	37	2	202626448	202626448	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:202626448C>T	ENST00000264276.6	-	4	641	c.269G>A	c.(268-270)gGg>gAg	p.G90E	ALS2_ENST00000467448.1_Missense_Mutation_p.G90E|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	90					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AACATATTGCCCAACCAGGGC	0.502000													17	84					0	0	0.00121646	0	0
SORCS1	114815	broad.mit.edu	37	10	108434901	108434901	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:108434901C>T	ENST00000263054.6	-	14	1853	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E616K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E151K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	616						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATCTCCCTTCATCAAAACTC	0.378000													5	56					0	0	0.000602214	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470429	19470429	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:19470429G>A	ENST00000270570.4	+	14	1283	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L	SLC47A1_ENST00000571335.1_Silent_p.L204L|SLC47A1_ENST00000395585.1_Silent_p.L399L|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.L399L|SLC47A1_ENST00000436810.2_Silent_p.L376L|RP11-1113L8.1_ENST00000574267.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	399						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GTGGTGTTCTGAGGGGGAGTG	0.532000													25	169					0	0	0.000586117	0	0
CHERP	10523	broad.mit.edu	37	19	16633869	16633869	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:16633869G>A	ENST00000546361.2	-	11	2125	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	CHERP_ENST00000198939.6_Silent_p.L669L|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	658	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTACCTTCACGAGGGGGGCCA	0.607000													7	54					0	0	0.000157383	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531645	84531645	+	RNA	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:84531645C>A	ENST00000527857.1	+	0	1667					NR_026851.1																						CATCTATATCCCATGAATCCC	0.498000													5	61					0.000602214	0.00356492	0.000602214	1	0
REG3G	130120	broad.mit.edu	37	2	79254244	79254244	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:79254244A>T	ENST00000272324.5	+	4	464	c.280A>T	c.(280-282)Agc>Tgc	p.S94C	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.S94C	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	94	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGTGAGGAGCATTAGTAA	0.537000													18	96					0	0	0.00152264	0	0
NEURL1	9148	broad.mit.edu	37	10	105349409	105349409	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:105349409C>G	ENST00000369780.4	+	5	1887	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.S476C	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		493					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGGTAGCTCTGCTGGTGGT	0.652000													8	75					0	0	0.000274275	0	0
KIF16B	55614	broad.mit.edu	37	20	16493527	16493527	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:16493527G>A	ENST00000354981.2	-	5	547	c.390C>T	c.(388-390)ttC>ttT	p.F130F	KIF16B_ENST00000355755.3_Silent_p.F130F|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.F130F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	130	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTATCCGACTGAAGAGTCCTT	0.463000													6	50					0	0	8.12818e-05	0	0
KIAA1377	57562	broad.mit.edu	37	11	101786027	101786027	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:101786027G>A	ENST00000263468.8	+	1	282	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	4							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGCTGGCGGGGAGGCCCGGAA	0.701000													6	52					0	0	0.00116845	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876378	120876378	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:120876378G>A	ENST00000273666.6	+	9	1052	c.781G>A	c.(781-783)Gag>Aag	p.E261K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E261K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E261K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	261					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGGCATCATGAGGGCAAACA	0.373000													7	29					0	0	8.12818e-05	0	0
HDAC9	9734	broad.mit.edu	37	7	18688173	18688173	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:18688173G>A	ENST00000406451.3	+	11	1475	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	HDAC9_ENST00000432645.2_Missense_Mutation_p.R442H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R429H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R440H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R445H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R398H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R442H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R365H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R401H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R414H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	442					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAATTGCCCCGTCACAGACCC	0.493000													7	100					0	0	0.000157383	0	0
LINC00922	283867	broad.mit.edu	37	16	65345333	65345333	+	RNA	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:65345333G>A	ENST00000569736.1	-	0	802				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GAGTGAAGATGACATGCCTGG	0.433000													21	86					0	0	0.00188189	0	0
GCNT2	2651	broad.mit.edu	37	6	10529657	10529657	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:10529657G>A	ENST00000379597.3	+	1	1069	c.513G>A	c.(511-513)ctG>ctA	p.L171L	GCNT2_ENST00000495262.1_Silent_p.L171L|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	171						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGGCTGACCTGAACTGCCTGG	0.517000													10	47					0	0	0.000673444	0	0
CASZ1	54897	broad.mit.edu	37	1	10713525	10713525	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:10713525C>T	ENST00000377022.3	-	11	2906	c.2589G>A	c.(2587-2589)atG>atA	p.M863I	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.M863I	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGATCCTCTCCATGATGGAGG	0.672000													4	41					0	0	0.00116845	0	0
TAF4	6874	broad.mit.edu	37	20	60551268	60551268	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr20:60551268C>G	ENST00000252996.3	-	15	3213	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1072					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGGCTTGTCTCACGTTCATTT	0.483000													10	89					0	0	0.000673444	0	0
PNLIP	5406	broad.mit.edu	37	10	118306878	118306878	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:118306878C>A	ENST00000369221.2	+	3	147	c.119C>A	c.(118-120)cCc>cAc	p.P40H	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	40					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ACGGAAAGACCCCTCCATATA	0.438000													5	56					0.000602214	0.00356492	0.000602214	1	0
PCLO	27445	broad.mit.edu	37	7	82785429	82785429	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:82785429A>G	ENST00000423517.2	-	2	865	c.528T>C	c.(526-528)ttT>ttC	p.F176F	PCLO_ENST00000333891.8_Silent_p.F176F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	176					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATCAAATCAAAAGGGTTGA	0.403000													7	53					0	0	0.000157383	0	0
EZR	7430	broad.mit.edu	37	6	159206352	159206352	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:159206352C>T	ENST00000367075.3	-	5	624	c.456G>A	c.(454-456)ctG>ctA	p.L152L	EZR_ENST00000392177.4_Silent_p.L120L|EZR_ENST00000337147.7_Silent_p.L152L|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	152	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTTGAGGGATCAGCCGCTCAG	0.562000			T	ROS1	NSCLC								10	50					0	0	0.000978159	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934332	49934332	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:49934332G>A	ENST00000221485.3	-	11	1500	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	SLC17A7_ENST00000600601.1_Silent_p.G376G|SLC17A7_ENST00000543531.1_Silent_p.G431G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	443					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GTGTGCCCACGCCGTTGGAGA	0.622000													6	29					0	0	8.12818e-05	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444523	26444523	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:26444523A>T	ENST00000244519.2	+	4	667	c.424A>T	c.(424-426)Aag>Tag	p.K142*	BTN3A3_ENST00000339789.4_Nonsense_Mutation_p.K100*|BTN3A3_ENST00000361232.3_Nonsense_Mutation_p.K100*	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	142						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGTGGAGCTGAAGGTTGCAGG	0.488000													10	82					0	0	0.000978159	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674767	25674767	+	Silent	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:25674767C>G	ENST00000382051.3	+	10	1157	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	SLC34A2_ENST00000504570.1_Silent_p.L368L|SLC34A2_ENST00000503434.1_Silent_p.L368L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	369					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCATCTTGCTCATACTCTCCC	0.527000			T	ROS1	NSCLC								10	106					0	0	0.000673444	0	0
ADARB2	105	broad.mit.edu	37	10	1405829	1405829	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr10:1405829C>T	ENST00000381312.1	-	3	796	c.471G>A	c.(469-471)gcG>gcA	p.A157A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	157	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACCGCTACCGCGAAGACCG	0.687000													4	24					0	0	0.000602214	0	0
ENPP2	5168	broad.mit.edu	37	8	120569904	120569904	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:120569904C>T	ENST00000427067.2	-	26	2692	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	ENPP2_ENST00000522826.1_Missense_Mutation_p.E842K|ENPP2_ENST00000522167.1_Missense_Mutation_p.E452K|ENPP2_ENST00000259486.6_Missense_Mutation_p.E869K|ENPP2_ENST00000075322.6_Missense_Mutation_p.E817K			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	817	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAGTTCTTCTACCCATTTT	0.458000													9	176					0	0	0.000673444	0	0
C7	730	broad.mit.edu	37	5	40958281	40958281	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:40958281G>T	ENST00000313164.9	+	11	1766	c.1407G>T	c.(1405-1407)gaG>gaT	p.E469D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	469	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTACTGTTGAGGGGACCCATT	0.483000													36	67					1.36161e-19	9.8868e-19	0.000814825	1	0
RGS9	8787	broad.mit.edu	37	17	63186341	63186341	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:63186341G>C	ENST00000449996.3	+	11	796	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	RGS9_ENST00000443584.3_Missense_Mutation_p.V242L|RGS9_ENST00000262406.9_Missense_Mutation_p.V245L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	245	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GAAGTCTTCTGTGTCCCTGGG	0.478000													121	222					0	0	0.000781405	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596229	3596229	+	Splice_Site	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:3596229C>G	ENST00000315212.3	-	6	1005		c.e6+1			NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1						RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGAAAGCTTACCATTTATCGT	0.413000													3	38					0	0	0.00024832	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414549	29414549	+	Silent	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	179	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378000													13	64					3.27435e-08	2.12617e-07	0.000219431	1	0
CIAPIN1	57019	broad.mit.edu	37	16	57473209	57473209	+	Splice_Site	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:57473209T>A	ENST00000567518.1	-	3	290		c.e3-2		CIAPIN1_ENST00000569370.1_Silent_p.S65S|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Silent_p.S65S|CIAPIN1_ENST00000565961.1_Silent_p.S65S|CIAPIN1_ENST00000394391.4_Silent_p.S65S|CIAPIN1_ENST00000569979.1_Silent_p.S65S			Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1						anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GGACTAAACCTGACAAAATAA	0.493000													54	120					0	0	0.000781405	0	0
ZFP82	284406	broad.mit.edu	37	19	36883908	36883908	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:36883908A>G	ENST00000392161.3	-	5	1576	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	ZFP82_ENST00000392171.1_Missense_Mutation_p.I445T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTCTCACCAATATGAATACT	0.408000													9	72					0	0	0.000442599	0	0
WNT7A	7476	broad.mit.edu	37	3	13916540	13916540	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:13916540T>G	ENST00000285018.4	-	2	506	c.202A>C	c.(202-204)Atg>Ctg	p.M68L	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	68					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCAGGCCCATTTGTGAGCCT	0.587000													4	42					0	0	0.00024832	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499589	4499589	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:4499589G>A	ENST00000301284.4	+	14	1741	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	HDGFRP2_ENST00000586684.1_Silent_p.Q559Q	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		559					transcription, DNA-dependent	nucleus	DNA binding|protein binding										aggcggtgcagaaagtgaaca	0.632000													4	16					0	0	0.00024832	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			3	16					0	0	6.4e-05	0	0
TCF20	6942	broad.mit.edu	37	22	42610586	42610586	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr22:42610586G>A	ENST00000359486.3	-	1	862	c.726C>T	c.(724-726)tcC>tcT	p.S242S	TCF20_ENST00000335626.4_Silent_p.S242S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	242	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaggaggaAG	0.517000													10	64					0	0	0.000442599	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905488	144905488	+	Silent	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:144905488G>C	ENST00000370490.1	+	1	5800	c.1545G>C	c.(1543-1545)ctG>ctC	p.L515L	SLITRK2_ENST00000413937.2_Silent_p.L515L|SLITRK2_ENST00000428560.2_Silent_p.L515L|SLITRK2_ENST00000447897.2_Silent_p.L515L|SLITRK2_ENST00000434188.2_Silent_p.L515L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	515						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGGTTCTGGATCAGCTCC	0.502000													13	104					0	0	0.00185496	0	0
DOCK4	9732	broad.mit.edu	37	7	111368635	111368635	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:111368635C>T	ENST00000428084.1	-	53	5895	c.5623G>A	c.(5623-5625)Gaa>Aaa	p.E1875K	DOCK4_ENST00000437633.1_Missense_Mutation_p.E1866K|DOCK4_ENST00000494651.2_Missense_Mutation_p.E749K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1866	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGATTTTCAAAGCCTGAG	0.622000													10	61					0	0	0.00136819	0	0
SOX17	64321	broad.mit.edu	37	8	55371727	55371727	+	Silent	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:55371727G>C	ENST00000297316.4	+	2	621	c.417G>C	c.(415-417)ccG>ccC	p.P139P		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	139					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AGTACCGGCCGCGGCGGCGCA	0.736000													3	38					0	0	0.000602214	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360361	72360361	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:72360361G>A	ENST00000001146.2	-	5	1140	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	CYP26B1_ENST00000546307.1_Silent_p.L238L|CYP26B1_ENST00000412253.1_Silent_p.L122L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	313					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			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCTTCAGCAGCTGCATG	0.652000													4	20					0	0	0.00024832	0	0
BAGE2	85319	broad.mit.edu	37	21	11047540	11047540	+	RNA	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr21:11047540G>C	ENST00000470054.1	-	0	714									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)		CAAAAAGTATGATACCCTTTG	0.328000													10	330					0	0	0.000978159	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563941	176563941	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:176563941G>A	ENST00000367662.3	+	3	2365	c.1201G>A	c.(1201-1203)Gca>Aca	p.A401T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A401T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	401					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCTTCATGGCATCTTGCCG	0.602000													13	93					0	0	0.000219431	0	0
COL28A1	340267	broad.mit.edu	37	7	7472294	7472294	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:7472294C>A	ENST00000399429.3	-	24	2038	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	633					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTTTGAGTCCTGGAGCACC	0.488000													61	89					1.3268e-25	9.77854e-25	0.000781405	1	0
FOXD4	2298	broad.mit.edu	37	9	118076	118076	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:118076C>T	ENST00000382500.2	-	1	341	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	15					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGGAGGCTGCGCTGCGGTGT	0.642000													16	189					0	0	0.00074312	0	0
LILRB2	10288	broad.mit.edu	37	19	54778622	54778622	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:54778622C>T	ENST00000391748.1	-	14	1836	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K	LILRB2_ENST00000391749.4_Missense_Mutation_p.R571K|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Missense_Mutation_p.R455K|LILRB2_ENST00000314446.5_Missense_Mutation_p.R570K	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	571					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCTTCCGTCTGAGGGTCAA	0.632000													9	83					0	0	0.000274275	0	0
GTF2E1	2960	broad.mit.edu	37	3	120489623	120489623	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:120489623C>T	ENST00000283875.5	+	3	590	c.497C>T	c.(496-498)tCa>tTa	p.S166L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	166					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAGGATGAATCAGCAATGCCC	0.418000													17	156					0	0	0.00074312	0	0
CSMD3	114788	broad.mit.edu	37	8	113812476	113812476	+	Silent	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:113812476C>T	ENST00000297405.5	-	13	2131	c.1887G>A	c.(1885-1887)ttG>ttA	p.L629L	CSMD3_ENST00000343508.3_Silent_p.L589L|CSMD3_ENST00000352409.3_Silent_p.L629L|CSMD3_ENST00000455883.2_Silent_p.L525L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	629	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCTCACTATCAAGTCTGGTA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	109					0	0	0.000157383	0	0
AHI1	54806	broad.mit.edu	37	6	135784321	135784321	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:135784321G>A	ENST00000367800.4	-	6	1089	c.873C>T	c.(871-873)gaC>gaT	p.D291D	AHI1_ENST00000327035.6_Silent_p.D291D|AHI1_ENST00000457866.2_Silent_p.D291D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	291						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTGCATGCTGTCTTCTGTGC	0.323000													7	73					0	0	8.12818e-05	0	0
PTK2B	2185	broad.mit.edu	37	8	27277480	27277480	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:27277480G>T	ENST00000397501.1	+	8	1081	c.273G>T	c.(271-273)ggG>ggT	p.G91G	PTK2B_ENST00000420218.2_Silent_p.G91G|PTK2B_ENST00000346049.5_Silent_p.G91G|PTK2B_ENST00000517339.1_Silent_p.G91G|PTK2B_ENST00000544172.1_Silent_p.G91G|PTK2B_ENST00000338238.4_Silent_p.G91G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	91	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTGCTATGGGCTGAGGCTGA	0.582000													11	31					1.67772e-17	1.20047e-16	0.000978159	1	0
SCN10A	6336	broad.mit.edu	37	3	38739977	38739977	+	Silent	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:38739977G>T	ENST00000449082.2	-	27	4733	c.4734C>A	c.(4732-4734)gcC>gcA	p.A1578A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1578					sensory perception	voltage-gated sodium channel complex		p.A1578A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCCAATTCGGGCCAGGCGGA	0.512000													17	60					9.16793e-09	6.08717e-08	0.000566183	1	0
ZNF761	388561	broad.mit.edu	37	19	53959377	53959377	+	RNA	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:53959377G>C	ENST00000454407.1	+	0	2069							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCCCTTACCTGCCATCGTAGA	0.438000													20	95					0	0	0.00121646	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594951	41594951	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:41594951G>A	ENST00000330436.3	+	2	298	c.298G>A	c.(298-300)Ggg>Agg	p.G100R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	100					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GGAGTTCAGCGGGCGAGGCGA	0.642000													9	43					0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	113504872	113504872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:113504872C>A	ENST00000297405.5	-	31	5368	c.5124G>T	c.(5122-5124)atG>atT	p.M1708I	CSMD3_ENST00000343508.3_Missense_Mutation_p.M1668I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1708I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M1604I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1708	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGCCATTCATTATATTGC	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	69					1.30998e-17	9.4191e-17	0.00111076	1	0
CSMD1	64478	broad.mit.edu	37	8	4851884	4851884	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:4851884G>T	ENST00000602557.1	-	1	610	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	CSMD1_ENST00000539096.1_Missense_Mutation_p.L19M|CSMD1_ENST00000537824.1_Missense_Mutation_p.L19M|CSMD1_ENST00000520002.1_Missense_Mutation_p.L19M|CSMD1_ENST00000542608.1_Missense_Mutation_p.L19M|CSMD1_ENST00000602723.1_Missense_Mutation_p.L19M|CSMD1_ENST00000400186.3_Missense_Mutation_p.L19M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	19						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCGCGCACAGCACCAGCAGC	0.657000													4	30					1.024e-07	6.59116e-07	0.000602214	1	0
DCX	1641	broad.mit.edu	37	X	110654193	110654193	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:110654193G>A	ENST00000338081.3	-	1	181	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000356915.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	4					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGAAGGGGGAGTGTTTTCATT	0.453000													12	84					0	0	0.00136819	0	0
LRP1B	53353	broad.mit.edu	37	2	141641532	141641532	+	Silent	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:141641532T>A	ENST00000389484.3	-	25	4994	c.4023A>T	c.(4021-4023)acA>acT	p.T1341T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1341					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGTCGACTGTCAGGCCTT	0.473000										TSP Lung(27;0.18)			14	106					0	0	0.000308642	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764192	77764192	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:77764192A>T	ENST00000521891.2	+	10	5483	c.5035A>T	c.(5035-5037)Atc>Ttc	p.I1679F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1634F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1634F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1653F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1634	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTGATTTAATCTCTGCTCA	0.428000										HNSCC(33;0.089)			5	106					0	0	0.000602214	0	0
FER	2241	broad.mit.edu	37	5	108203572	108203572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:108203572C>T	ENST00000281092.4	+	6	970	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	FER_ENST00000536402.1_Nonsense_Mutation_p.Q196*|FER_ENST00000438717.2_Nonsense_Mutation_p.Q21*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	196	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			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)		ACAGCTCCATCAGAATCAGTA	0.388000													8	25					0	0	0.000157383	0	0
LPHN2	23266	broad.mit.edu	37	1	82417722	82417722	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:82417722A>C	ENST00000370728.1	+	11	2323	c.1678A>C	c.(1678-1680)Agt>Cgt	p.S560R	LPHN2_ENST00000370713.1_Missense_Mutation_p.S560R|LPHN2_ENST00000370730.1_Missense_Mutation_p.S560R|LPHN2_ENST00000335786.5_Missense_Mutation_p.S560R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S560R|LPHN2_ENST00000370715.1_Missense_Mutation_p.S560R|LPHN2_ENST00000359929.3_Missense_Mutation_p.S560R|LPHN2_ENST00000370717.2_Missense_Mutation_p.S560R|LPHN2_ENST00000370723.1_Missense_Mutation_p.S560R|LPHN2_ENST00000370721.1_Missense_Mutation_p.S498R|LPHN2_ENST00000370725.1_Missense_Mutation_p.S560R|LPHN2_ENST00000271029.4_Missense_Mutation_p.S560R|LPHN2_ENST00000370727.1_Missense_Mutation_p.S560R|LPHN2_ENST00000394879.1_Missense_Mutation_p.S560R			O95490	LPHN2_HUMAN	latrophilin 2	560					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGGGATGTAAGTTCTTCAGT	0.433000													4	31					0	0	0.000602214	0	0
STX5	6811	broad.mit.edu	37	11	62591939	62591939	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:62591939C>G	ENST00000294179.3	-	9	931	c.778G>C	c.(778-780)Gac>Cac	p.D260H	STX5_ENST00000377897.4_Missense_Mutation_p.D260H|STX5_ENST00000541317.1_Missense_Mutation_p.D164H|STX5_ENST00000394690.1_Missense_Mutation_p.D206H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	260					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGCTCGTCAATGAGCTGC	0.572000													10	85					0	0	0.000978159	0	0
CHRM2	1129	broad.mit.edu	37	7	136700368	136700368	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:136700368C>G	ENST00000445907.2	+	3	1284	c.756C>G	c.(754-756)gaC>gaG	p.D252E	AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D252E|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D252E|CHRM2_ENST00000397608.3_Missense_Mutation_p.D252E|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D252E|CHRM2_ENST00000320658.5_Missense_Mutation_p.D252E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	252					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCAGCAGTGACGATGGCCTGG	0.507000													3	30					0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31608189	31608189	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:31608189T>C	ENST00000404765.2	-	23	3400	c.3111A>G	c.(3109-3111)acA>acG	p.T1037T	BAG6_ENST00000211379.5_Silent_p.T1001T|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Silent_p.T1001T|BAG6_ENST00000362049.6_Silent_p.T1001T|BAG6_ENST00000375964.6_Silent_p.T1007T			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1007					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCAAGGTTCTGTCTCAGCTG	0.557000													30	124					0	0	0.001512	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564076	140564076	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:140564076G>T	ENST00000361016.2	+	1	3097	c.1942G>T	c.(1942-1944)Ggc>Tgc	p.G648C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		648	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGGACAATGGCGAGCCTCC	0.711000													17	50					6.33239e-15	4.48747e-14	0.00152264	1	0
CNGA2	1260	broad.mit.edu	37	X	150912290	150912290	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:150912290G>A	ENST00000329903.4	+	6	1348	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	439					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGCTGAGATAGCCAT	0.498000													12	81					0	0	0.00136819	0	0
SBNO2	22904	broad.mit.edu	37	19	1113547	1113547	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:1113547T>A	ENST00000361757.3	-	19	2471	c.2234A>T	c.(2233-2235)cAg>cTg	p.Q745L	SBNO2_ENST00000587024.1_Missense_Mutation_p.Q735L|SBNO2_ENST00000438103.2_Missense_Mutation_p.Q688L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	745					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCACCCGCTGGGGGCCGCC	0.697000													5	10					0	0	0.00116845	0	0
DGKK	139189	broad.mit.edu	37	X	50133388	50133388	+	RNA	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:50133388C>T	ENST00000376025.2	-	0	1923							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTGGGAGTCTCACGAATCATC	0.398000													23	119					0	0	0.00047179	0	0
SAMD3	154075	broad.mit.edu	37	6	130530743	130530743	+	Missense_Mutation	SNP	C	C	T	rs17852709		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:130530743C>T	ENST00000532763.1	-	4	403	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	SAMD3_ENST00000368134.2_Missense_Mutation_p.E94K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E94K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E94K|SAMD3_ENST00000324172.6_Missense_Mutation_p.E94K|SAMD3_ENST00000457563.2_Missense_Mutation_p.E118K|SAMD3_ENST00000533296.1_5'UTR			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	94										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GAGGACTCTTCATCCCTGTAA	0.468000													6	39					0	0	0.00116845	0	0
NAV3	89795	broad.mit.edu	37	12	78388649	78388649	+	Silent	SNP	T	T	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:78388649T>A	ENST00000397909.2	+	6	911	c.738T>A	c.(736-738)acT>acA	p.T246T	NAV3_ENST00000536525.2_Silent_p.T246T|NAV3_ENST00000266692.7_Silent_p.T246T|NAV3_ENST00000228327.6_Silent_p.T246T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	246						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGCCTACTAGGTCAGTTA	0.333000										HNSCC(70;0.22)			16	30					0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13700752	13700752	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:13700752T>G	ENST00000265104.4	-	78	13824	c.13720A>C	c.(13720-13722)Aat>Cat	p.N4574H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4574					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTTACTATTGTTTTCTGCA	0.383000									Kartagener syndrome				30	104					0	0	0.001512	0	0
LRP1B	53353	broad.mit.edu	37	2	141773358	141773358	+	Silent	SNP	A	A	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:141773358A>G	ENST00000389484.3	-	13	3068	c.2097T>C	c.(2095-2097)ggT>ggC	p.G699G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	699					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGAGTTAAACCGTTTGGCC	0.408000										TSP Lung(27;0.18)			9	39					0	0	0.000274275	0	0
PPM1A	5494	broad.mit.edu	37	14	60749757	60749757	+	Missense_Mutation	SNP	G	G	A	rs143557303		TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:60749757G>A	ENST00000395076.4	+	2	766	c.336G>A	c.(334-336)atG>atA	p.M112I	PPM1A_ENST00000325658.3_Missense_Mutation_p.M112I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M185I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M112I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	112					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATGAACACATGAGAGTTATGT	0.403000													11	56					0	0	0.000978159	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298801	125298801	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chrX:125298801A>T	ENST00000538699.1	-	2	1187	c.1107T>A	c.(1105-1107)caT>caA	p.H369Q	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.H369Q	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	369										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCAGGGAACCATGGCCGGTGC	0.642000													13	80					0	0	0.000308642	0	0
RTTN	25914	broad.mit.edu	37	18	67687924	67687924	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr18:67687924G>A	ENST00000255674.6	-	45	6366	c.6080C>T	c.(6079-6081)aCg>aTg	p.T2027M	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2027							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTGCTGAACCGTGGTGTTCTC	0.473000													12	111					0	0	0.00185496	0	0
LAMC2	3918	broad.mit.edu	37	1	183190037	183190037	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr1:183190037C>G	ENST00000264144.4	+	5	646	c.581C>G	c.(580-582)gCc>gGc	p.A194G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A194G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	194	Laminin EGF-like 4; first part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGGCATTCAGCCAGCTGCCGC	0.453000													4	59					0	0	0.00024832	0	0
C19orf35	374872	broad.mit.edu	37	19	2276204	2276204	+	Silent	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:2276204G>C	ENST00000342063.3	-	4	990	c.897C>G	c.(895-897)ggC>ggG	p.G299G		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	299										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGGGCCGCGCCCCACGCCT	0.711000													2	1					0	0	6.4e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78722189	78722189	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr9:78722189G>T	ENST00000545128.1	+	9	1668	c.1130G>T	c.(1129-1131)cGt>cTt	p.R377L	PCSK5_ENST00000376752.4_Missense_Mutation_p.R377L|PCSK5_ENST00000376767.3_Missense_Mutation_p.R377L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	377	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGAGGCAGCGTTGCACGGAC	0.478000													11	43					4.68919e-08	3.03152e-07	0.000673444	1	0
POLR2J4	84820	broad.mit.edu	37	7	44009452	44009452	+	RNA	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:44009452C>T	ENST00000427076.1	-	0	1078					NR_003655.2																						TGGGCCCACCCGCTGAAACCT	0.667000													8	34					0	0	0.000157383	0	0
MYH15	22989	broad.mit.edu	37	3	108211363	108211363	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:108211363T>C	ENST00000273353.3	-	10	971	c.915A>G	c.(913-915)ggA>ggG	p.G305G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	305	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCTTTTTGTCCAGATAGAA	0.378000													10	24					0	0	0.000442599	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645644	7645644	+	Splice_Site	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:7645644G>T	ENST00000340209.4	+	5	873		c.e5+1		RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TAAAATCGAGGTGCATGTTCA	0.448000													7	106					2.7689e-08	1.80591e-07	8.12818e-05	1	0
ZNF445	353274	broad.mit.edu	37	3	44488255	44488255	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:44488255C>G	ENST00000425708.2	-	7	3249	c.2908G>C	c.(2908-2910)Gac>Cac	p.D970H	ZNF445_ENST00000396077.2_Missense_Mutation_p.D970H			P59923	ZN445_HUMAN	zinc finger protein 445	970					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATGCTTATGTCCTGGAGTCCA	0.443000													36	106					0	0	0.000692331	0	0
DPF2	5977	broad.mit.edu	37	11	65113187	65113187	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:65113187C>T	ENST00000528416.1	+	7	821	c.688C>T	c.(688-690)Cac>Tac	p.H230Y	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.H244Y	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	230					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCACTATGCCCACTCCCACTT	0.517000													6	52					0	0	0.00116845	0	0
FIGN	55137	broad.mit.edu	37	2	164466757	164466757	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:164466757C>A	ENST00000333129.3	-	3	1899	c.1585G>T	c.(1585-1587)Ggg>Tgg	p.G529W	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	529						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTGCCTGTCCCCCGAGGTCCA	0.512000													11	40					0.000978159	0.00576723	0.000978159	1	0
OR4D2	124538	broad.mit.edu	37	17	56247649	56247649	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr17:56247649C>G	ENST00000545221.1	+	1	633	c.633C>G	c.(631-633)ttC>ttG	p.F211L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTCTGGTTCTTCCTCCTCC	0.537000													26	68					0	0	0.00106085	0	0
SYNE2	23224	broad.mit.edu	37	14	64469512	64469512	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:64469512G>A	ENST00000358025.3	+	30	4091	c.3861G>A	c.(3859-3861)aaG>aaA	p.K1287K	SYNE2_ENST00000554584.1_Silent_p.K1287K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.K1287K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1287					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGTATTAAAGGAGTTACACC	0.343000													8	63					0	0	0.000274275	0	0
ALMS1	7840	broad.mit.edu	37	2	73830384	73830384	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:73830384G>A	ENST00000264448.6	+	21	12423	c.12312G>A	c.(12310-12312)caG>caA	p.Q4104Q	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.Q4062Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4104					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCTATCCAGAAGAACAAGC	0.478000													7	36					0	0	0.000274275	0	0
SNW1	22938	broad.mit.edu	37	14	78189587	78189587	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:78189587C>A	ENST00000261531.7	-	11	1129	c.1067G>T	c.(1066-1068)cGg>cTg	p.R356L	SNW1_ENST00000555761.1_Missense_Mutation_p.R356L|SNW1_ENST00000554775.1_Missense_Mutation_p.R194L|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	356					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCTGTCATGCCGGATTTCATC	0.458000													32	88					8.73648e-17	6.22105e-16	0.000814825	1	0
ZNF761	388561	broad.mit.edu	37	19	53952852	53952852	+	RNA	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:53952852G>T	ENST00000454407.1	+	0	556							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCTATACAGGGACGTGATGCT	0.478000													10	39					7.03913e-09	4.69487e-08	0.00136819	1	0
USP44	84101	broad.mit.edu	37	12	95912001	95912001	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:95912001G>C	ENST00000258499.3	-	6	2356	c.2068C>G	c.(2068-2070)Cca>Gca	p.P690A	USP44_ENST00000537435.2_Missense_Mutation_p.P690A|USP44_ENST00000393091.2_Missense_Mutation_p.P690A|USP44_ENST00000552440.1_3'UTR	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	690					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGAGCTCTGGAGGCAAAAGT	0.433000													5	69					0	0	0.00116845	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494500	20494500	+	Splice_Site	SNP	G	G	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr16:20494500G>T	ENST00000573854.1	+	13	1743		c.e13+1		ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCAAGAAAGGTAAGGCCTTT	0.463000													21	116					2.98393e-07	1.89583e-06	0.000375601	1	0
FAM65B	9750	broad.mit.edu	37	6	24843500	24843500	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr6:24843500C>T	ENST00000259698.4	-	14	1685	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	FAM65B_ENST00000538035.1_Missense_Mutation_p.D483N|FAM65B_ENST00000378023.4_Missense_Mutation_p.D454N|FAM65B_ENST00000510784.2_Missense_Mutation_p.D488N|FAM65B_ENST00000540914.1_Missense_Mutation_p.D454N	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	504					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCCTCTGGGTCTTCCTCCTTC	0.582000													7	44					0	0	0.000274275	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418167	105418167	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:105418167C>G	ENST00000333244.5	-	7	3740	c.3621G>C	c.(3619-3621)aaG>aaC	p.K1207N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1207						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCAGTGGTCTTGAGGTCCC	0.662000													20	161					0	0	0.000295444	0	0
EPPK1	83481	broad.mit.edu	37	8	144941387	144941387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr8:144941387G>A	ENST00000525985.1	-	2	6106	c.6035C>T	c.(6034-6036)gCc>gTc	p.A2012V				P58107	EPIPL_HUMAN	epiplakin 1	2012						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCCCGTGGCCACCTGCAC	0.627000													19	33					0	0	0.00074312	0	0
CUX2	23316	broad.mit.edu	37	12	111742083	111742083	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr12:111742083C>A	ENST00000261726.6	+	10	977	c.823C>A	c.(823-825)Cgc>Agc	p.R275S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCTCCATCCGCCTGGCTTG	0.642000													8	21					7.48243e-07	4.69323e-06	0.000442599	1	0
IGHV3-20	28445	broad.mit.edu	37	14	106667785	106667785	+	RNA	SNP	A	A	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr14:106667785A>C	ENST00000390606.2	-	0	208																											TGCCATAATCATCAAAGGTGA	0.577000													19	167					0	0	0.000958276	0	0
ARPP21	10777	broad.mit.edu	37	3	35763130	35763130	+	Silent	SNP	G	G	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr3:35763130G>A	ENST00000187397.4	+	14	1485	c.1029G>A	c.(1027-1029)ggG>ggA	p.G343G	ARPP21_ENST00000337271.5_Silent_p.G289G|ARPP21_ENST00000444190.1_Silent_p.G289G|ARPP21_ENST00000417925.1_Silent_p.G309G|ARPP21_ENST00000458225.1_Silent_p.G309G	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	343	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAACATCTGGGAGTCGACAGA	0.537000													4	32					0	0	0.000602214	0	0
SSFA2	6744	broad.mit.edu	37	2	182767109	182767109	+	Silent	SNP	T	T	C			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr2:182767109T>C	ENST00000431877.2	+	8	1508	c.1329T>C	c.(1327-1329)ccT>ccC	p.P443P	SSFA2_ENST00000320370.7_Silent_p.P443P|SSFA2_ENST00000428267.2_Silent_p.P290P|SSFA2_ENST00000409001.1_Silent_p.P443P	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	443						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TATCCACACCTGAAAAAGAGC	0.393000													4	50					0	0	0.000602214	0	0
ZNF676	163223	broad.mit.edu	37	19	22363504	22363504	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr19:22363504A>T	ENST00000397121.2	-	3	1332	c.1015T>A	c.(1015-1017)Tgt>Agt	p.C339S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATTCTTCACATTTGTAGGGT	0.413000													20	66					0	0	0.00152264	0	0
TIFA	92610	broad.mit.edu	37	4	113199144	113199145	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr4:113199144_113199145insA	ENST00000361717.2	-	2	709_710	c.428_429insT	c.(427-429)ttcfs	p.F143fs	TIFA_ENST00000500655.2_Frame_Shift_Ins_p.F143fs	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	143							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ATCTTGGAGATAAAATAAATTG	0.465													7	39	---	---	---	---					
APC	324	broad.mit.edu	37	5	112177967	112177968	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr5:112177967_112177968delCG	ENST00000457016.1	+	16	7056_7057	c.6676_6677delCG	c.(6676-6678)afs	p.R2226fs	APC_ENST00000257430.4_Frame_Shift_Del_p.R2226fs|APC_ENST00000508376.2_Frame_Shift_Del_p.R2226fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2226	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCAATCTCTCGAGGCAGGACA	0.401		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			19	125	---	---	---	---					
DDX56	54606	broad.mit.edu	37	7	44610424	44610424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr7:44610424delT	ENST00000258772.5	-	7	1049	c.943delA	c.(943-945)ctfs	p.T315fs	DDX56_ENST00000431640.1_Intron|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	315	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCAGCATCAGTTGCTATGACA	0.572													100	113	---	---	---	---					
TRPC6	7225	broad.mit.edu	37	11	101323821	101323821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6761-01A-31D-1945-08	TCGA-49-6761-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5721b714-3c3e-49e8-b301-25727fd130cd	24721de3-4572-4864-9ba5-1f54a9023005	g.chr11:101323821delA	ENST00000344327.3	-	13	3085	c.2661delT	c.(2659-2661)atfs	p.I887fs	TRPC6_ENST00000360497.4_Frame_Shift_Del_p.I832fs|TRPC6_ENST00000348423.4_Frame_Shift_Del_p.I771fs|TRPC6_ENST00000532133.1_Frame_Shift_Del_p.I809fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	887					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGTCCTGCTTAATTTCCTTCA	0.393													12	68	---	---	---	---