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
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393000													6	69					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433000													3	97					0.00909568	0.00959181	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000586184.1_Silent_p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597000													8	30					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393000													18	84					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572000													12	84					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48941653	48941653	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTAAACGATACGAAGAAATTT	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	60					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:43882502G>A	ENST00000443950.2	-	3	1317	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552000													9	26					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701000													5	37					0.184627	0.191221	1	1	0
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGCAGACTTTTTGAAGGGTC	0.453000													26	93					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000512091.1	+	8	1973	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363000													10	39					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878584	89878584	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000555353.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587000													13	62					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682000													7	38					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572000													27	97					0	0	1	0	0
MC2R	0	broad.mit.edu	37	18	13885200	13885200	+	Silent	SNP	G	G	A	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498000													19	49					0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667000													3	21					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438000													4	273					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652000													5	40					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408000													19	87					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712125	47712125	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Silent_p.T378T	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463000													17	105					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000431261.2_Silent_p.L371L					von Willebrand factor A domain containing 9																		TCAGCAGGTCCAGGAAACCAA	0.527000													5	42					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657000													21	143					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488000										HNSCC(62;0.18)			7	154					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657000													4	37					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				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)		GGCGCTGGGGGCACTGGGCAC	0.677000													3	47					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91691589	91691589	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5800_splice	c.e25-1	p.G1934_splice	AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299000			T	BRAF	papillary thyroid								10	40					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532000													31	151					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													3	30					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													2	2					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:74769597G>A	ENST00000412021.2	-	15	1835	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V|P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373000													3	55					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000450632.1	-	10	1575	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627000													27	89					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363000													12	15					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	59					1	1	1	1	0
GPR17	0	broad.mit.edu	37	2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:128409282G>A	ENST00000544369.1	+	4	1668	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607000													22	109					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363000													7	72					0	0	1	0	0
TUBBP1	0	broad.mit.edu	37	8	30210244	30210244	+	RNA	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:30210244C>T	ENST00000518096.1	+	0	856																											CACCTGCCTCCGCTTCCCTGG	0.547000													11	56					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:10430060G>A	ENST00000397077.1	-	8	1383	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517000													5	177					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATCTGTTTCTTGATCACA	0.458000													8	81					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	rs147830297	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448000													3	62					1	1	1	1	0
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986_splice	c.e9+1	p.G329_splice	ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612000													4	35					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587000													21	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483000													8	72					0	0	1	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1																						TCAGGGTTAGCGCCATGATTT	0.547000													3	26					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TTGGGCTGACCGTAGGGGATG	0.577000													19	101					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000529945.1	-	9	2564	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000313382.9_Silent_p.L612L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423000			T	PDGFRB	MPD								5	350					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587000													4	174					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433000													31	159					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502000													4	34					0	0	1	0	0
IGHA2	0	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G	rs114771275	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:106054658T>G	ENST00000390539.2	-	0	74																											GGACCAGGCATGCGACGACCA	0.622000													6	82					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87407079	87407079	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTGGCTCGGAAGTACTCAT	0.552000										Multiple Myeloma(13;0.14)			8	331					0	0	1	0	0
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000421127.2	-	11	1665	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F|CCDC17_ENST00000445048.2_Intron	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577000													5	22					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433000													3	97					0.00909568	0.00955046	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	2022195	2022195	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000585732.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597000													8	30					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													4	98					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R|ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393000													18	84					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572000													12	84					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48941653	48941653	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTAAACGATACGAAGAAATTT	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	60					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:43882502G>A	ENST00000443950.2	-	3	1317	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552000													9	26					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916719	144916719	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:144916719G>A	ENST00000529945.1	-	9	2564	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423000			T	PDGFRB	MPD								5	350					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	28					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGCAGACTTTTTGAAGGGTC	0.453000													26	93					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr4:62679557T>A	ENST00000512091.1	+	8	1973	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363000													10	39					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878584	89878584	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	FOXN3_ENST00000555353.1_Silent_p.S79S|FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587000													13	62					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q|JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682000													7	38					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572000													27	97					0	0	1	0	0
MC2R	0	broad.mit.edu	37	18	13885200	13885200	+	Silent	SNP	G	G	A	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498000													19	49					0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990274	103990274	+	Silent	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667000													3	21					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51297838	51297838	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986_splice	c.e9+1	p.G329_splice	ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612000													4	35					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438000													4	273					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911164	150911164	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCATCCAGGCGGAACCTGC	0.652000													5	40					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408000													19	87					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:54756362C>T	ENST00000450632.1	-	10	1575	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627000													27	89					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712125	47712125	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463000													17	105					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65871953	65871953	+	Silent	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000313182.2_Silent_p.L450L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L					von Willebrand factor A domain containing 9																		TCAGCAGGTCCAGGAAACCAA	0.527000													5	42					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701000													5	37					0.184627	0.190681	1	1	0
PKP4	8502	broad.mit.edu	37	2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Intron	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488000										HNSCC(62;0.18)			7	154					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657000													4	37					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				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)		GGCGCTGGGGGCACTGGGCAC	0.677000													3	47					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													5	115					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91691589	91691589	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5800_splice	c.e25-1	p.G1934_splice	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299000			T	BRAF	papillary thyroid								10	40					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532000													31	151					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107396937	107396937	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000489247.1_3'UTR	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393000													6	69					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569953	107569953	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:107569953C>A	ENST00000393561.1	-	28	4905	c.4721G>T	c.(4720-4722)cGa>cTa	p.R1574L	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.R1550L			P07942	LAMB1_HUMAN	laminin, beta 1	1550	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTCAACTCGTTCACGTAT	0.418000													3	79					1	1	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:74769597G>A	ENST00000412021.2	-	15	1835	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V|P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373000													3	55					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70828895	70828895	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363000													12	15					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													6	253					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TTGGGCTGACCGTAGGGGATG	0.577000													19	101					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	88					0	0	1	0	0
LPPR4	0	broad.mit.edu	37	1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363000													7	72					0	0	1	0	0
TUBBP1	0	broad.mit.edu	37	8	30210244	30210244	+	RNA	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:30210244C>T	ENST00000518096.1	+	0	856																											CACCTGCCTCCGCTTCCCTGG	0.547000													11	56					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr3:10430060G>A	ENST00000397077.1	-	8	1383	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517000													5	177					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATCTGTTTCTTGATCACA	0.458000													8	81					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	rs147830297	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448000													3	62					1	1	1	1	0
SKA3	221150	broad.mit.edu	37	13	21729267	21729267	+	Missense_Mutation	SNP	G	G	A	rs11147977	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:21729267G>A	ENST00000400018.3	-	8	1211	c.1142C>T	c.(1141-1143)aCa>aTa	p.T381I	SKA3_ENST00000314759.5_3'UTR	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	0					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363000													3	33					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832695	150832695	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587000													21	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082695	9082695	+	Silent	SNP	T	T	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483000													8	72					0	0	1	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1																						TCAGGGTTAGCGCCATGATTT	0.547000													3	26					0	0	1	0	0
GPR17	0	broad.mit.edu	37	2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr2:128409282G>A	ENST00000544369.1	+	4	1668	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607000													22	109					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657000													21	143					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													4	101					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177946	91177946	+	Silent	SNP	C	C	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433000													31	159					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502000													4	34					0	0	1	0	0
CCDC17	149483	broad.mit.edu	37	1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:46086625G>A	ENST00000421127.2	-	11	1665	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577000													5	22					0	0	1	0	0
RP4-749H3.1	0	broad.mit.edu	37	1	20693624	20693625	+	RNA	DEL	AG	AG	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:20693624_20693625delAG	ENST00000426428.1	-	0	1279					NR_033887.1																						gggagggggaagagagagagag	0.629													2	4	---	---	---	---					
PLXND1	23129	broad.mit.edu	37	3	129324627	129324628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:129324627_129324628insT	ENST00000393239.1	-	1	1033_1034	c.855_856insA	c.(853-858)cacgtcfs	p.HV285fs	PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.HV285fs			Q9Y4D7	PLXD1_HUMAN	plexin D1	285	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGGTCGGACGGGTGCAGGAAGG	0.673													6	1	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32972737	32972738	+	Frame_Shift_Ins	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000544455.1	+	27	10314_10315	c.10087_10088insT	c.(10087-10089)atcfs	p.I3363fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3363					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAATTTATATCTGTCAGT	0.381			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	63	---	---	---	---					
SYDE1	85360	broad.mit.edu	37	19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tcfs	p.S159fs	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706													2	4	---	---	---	---					
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:49850472_49850473insG	ENST00000377214.4	-	8	1254_1255	c.892_893insC	c.(892-894)tgcfs	p.C298fs	TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs			Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564													10	313	---	---	---	---					
P2RX6	9127	broad.mit.edu	37	22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)ttfs	p.F354fs	P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CCAGGTCACCTTTTTCTGTGA	0.587													2	4	---	---	---	---					
RP4-749H3.1	0	broad.mit.edu	37	1	20693624	20693625	+	RNA	DEL	AG	AG	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr1:20693624_20693625delAG	ENST00000426428.1	-	0	1279					NR_033887.1																						gggagggggaagagagagagag	0.629													2	4	---	---	---	---					
MNX1	3110	broad.mit.edu	37	7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gct>gc	p.AA172del		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803													3	4	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32972737	32972738	+	Frame_Shift_Ins	INS	-	-	T	rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:32972737_32972738insT	ENST00000544455.1	+	27	10314_10315	c.10087_10088insT	c.(10087-10089)atcfs	p.I3363fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3363					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAATTTATATCTGTCAGT	0.381			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	63	---	---	---	---					
RP11-189E14.5	0	broad.mit.edu	37	16	49487388	49487390	+	RNA	DEL	TCC	TCC	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr16:49487388_49487390delTCC	ENST00000576671.1	-	0	74																											ACACAACTTTtcctcctcctcct	0.507													2	4	---	---	---	---					
SYDE1	85360	broad.mit.edu	37	19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tcfs	p.S159fs	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706													2	4	---	---	---	---					
P2RX6	9127	broad.mit.edu	37	22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)ttfs	p.F354fs	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CCAGGTCACCTTTTTCTGTGA	0.587													2	4	---	---	---	---