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
TUBB1	81027	broad.mit.edu	37	20	57599431	57599431	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57599431T>C	ENST00000217133.1	+	4	1218	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	317					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCTGCATTTTCCGGGGCAA	0.597000													5	54					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107707040	107707040	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107707040G>C	ENST00000388781.3	-	20	2535	c.2452C>G	c.(2452-2454)Cac>Gac	p.H818D	LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D|LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	818	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATGGCAGTGACATGCTGGA	0.527000													3	16					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055746	75055746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75055746G>T	ENST00000326665.5	-	12	1963	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	582	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGATGAGGTTGATGAAGCAGT	0.383000													9	11					1.12685e-05	1.1743e-05	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138451204	138451204	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451204G>A	ENST00000344876.4	-	1	2425	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACCGACTCTGCATATTCAAA	0.428000													31	104					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048585	148048585	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:148048585G>T	ENST00000370460.2	+	14	3658	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	AFF2_ENST00000286437.5_Missense_Mutation_p.R701I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1060					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCCGGAGACCCAAGCTC	0.522000													35	228					3.62531e-18	4.18956e-18	1	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42891917	42891917	+	Missense_Mutation	SNP	G	G	A	rs111998272	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42891917G>A	ENST00000342560.5	+	4	683	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	199	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCATGAAGAGGAGCCCCA	0.552000													13	257					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389445	22389445	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:22389445G>C	ENST00000334304.5	-	19	4118	c.3849C>G	c.(3847-3849)ctC>ctG	p.L1283L	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1283					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGCCAAGTTGAGGCCATAAG	0.433000													7	45					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233349	104233349	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:104233349T>C	ENST00000238936.4	+	8	1185	c.948T>C	c.(946-948)caT>caC	p.H316H	TMEM180_ENST00000366277.2_Silent_p.H45H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	316						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGCTCCCCATCTCAACAACC	0.632000													38	148					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255478	16255478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16255478C>T	ENST00000375759.3	+	11	2947	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	915					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGGACCAGAAACTTCA	0.443000													16	229					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32134035	32134035	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32134035C>T	ENST00000395512.1	+	2	198	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PPT2-EGFL8_ENST00000453656.2_3'UTR|EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000422437.1_Intron			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	31						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGGATCCCTCAGAGAGAGGT	0.592000													7	38					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160245808	160245808	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:160245808C>G	ENST00000334256.4	-	8	794	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	163	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGAGAAGCCTCAGGAAAAGTG	0.358000													10	28					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838251	100838251	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:100838251T>C	ENST00000369208.3	-	12	3069	c.2287A>G	c.(2287-2289)Acc>Gcc	p.T763A	SIM1_ENST00000262901.4_Missense_Mutation_p.T763A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	763	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTCCGTTGGTTATTATAACA	0.393000													17	56					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855171	22855171	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:22855171G>T	ENST00000283645.4	+	13	1762	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	544					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCCAGCAGGCAGCACACCA	0.502000													19	48					1.33834e-09	1.46674e-09	1	1	0
PYGO1	26108	broad.mit.edu	37	15	55838669	55838669	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55838669A>G	ENST00000302000.6	-	3	906	c.812T>C	c.(811-813)aTt>aCt	p.I271T	PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	271	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTAATTCAATATTACTCTG	0.383000													24	80					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053787	1053787	+	Splice_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:1053787A>T	ENST00000263094.6	+	25	3655	c.3423_splice	c.e25-1	p.I1142_splice	ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice|ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1142					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCCCAGATCTTCCTGAA	0.642000													25	57					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433375	138433375	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:138433375T>C	ENST00000477593.1	-	8	1310	c.1237A>G	c.(1237-1239)Acg>Gcg	p.T413A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATTTCTTCGTTTTTACTTTA	0.318000													4	18					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038258	139038258	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:139038258G>T	ENST00000370540.1	-	3	906	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	295						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTAGGTTTTGAGTGTTTTTC	0.388000													33	59					2.80507e-11	3.1438e-11	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	rs148067811		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	231					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537000													17	156					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:39885673G>C	ENST00000260356.5	+	19	3236	c.3071G>C	c.(3070-3072)gGa>gCa	p.G1024A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTATGCTGGATTTGTCTTT	0.517000													19	171					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850106	73850106	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:73850106G>A	ENST00000523207.1	+	3	3104	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	839					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GATAAGCCTAGTGATGGGAGA	0.522000													39	58					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186980391	186980391	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:186980391G>A	ENST00000337774.5	-	3	744	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	119	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAATCTGACCGGAAAGTGATG	0.557000													15	63					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76422537	76422537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76422537C>A	ENST00000600087.1	+	1	129	c.129C>A	c.(127-129)taC>taA	p.Y43*	DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site|DNAH17_ENST00000586052.1_Splice_Site																							ACGGCACTTACCCTGATGCGG	0.632000													15	7					1.05317e-09	1.15849e-09	1	1	0
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:55739531T>G	ENST00000370830.3	-	1	831	c.133A>C	c.(133-135)Aac>Cac	p.N45H	BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463000													24	68					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938300	169938300	+	Translation_Start_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:169938300A>T	ENST00000421653.1	+	0	293				DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCTTTAAAGGCAGAAACC	0.483000													21	51					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159315	1159315	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:1159315C>T	ENST00000356191.2	+	16	1283	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCATGCCCGGGTACCTGC	0.637000													4	42					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69279634	69279634	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:69279634G>C	ENST00000551568.1	-	3	256	c.196C>G	c.(196-198)Cca>Gca	p.P66A	CPM_ENST00000546373.1_Missense_Mutation_p.P66A|CPM_ENST00000338356.3_Missense_Mutation_p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	66					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTTCCTTTGGAAACCGCCCC	0.408000													11	44					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815131	117815131	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:117815131G>C	ENST00000276204.6	+	50	5856	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1928	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAAACTGCAGAGCTGCAAAA	0.403000													18	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478000													26	98					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825504	4825504	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825504G>T	ENST00000380382.1	-	1	343	c.344C>A	c.(343-345)gCc>gAc	p.A115D	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATACGTGGCACAGAACGG	0.512000													6	20					0.00307968	0.00315402	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141263009	141263009	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:141263009G>A	ENST00000389328.4	-	16	2606	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	766					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCAGCTCAAGAAGTCGCCAT	0.448000													8	51					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9186809	9186809	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:9186809C>G	ENST00000327827.7	+	2	655	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	86										endometrium(4)|large_intestine(2)|lung(2)	8						GACTTTCTCTCTGGGTCCCCT	0.463000													4	12					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508372	123508372	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123508372A>T	ENST00000223026.4	+	3	683	c.45A>T	c.(43-45)caA>caT	p.Q15H	HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	15					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGTTGTTCAACCAGTACATC	0.343000													10	37					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35280093	35280093	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35280093G>A	ENST00000316637.5	+	4	443	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	146						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AATACCTGCTGAAAAAGGTAC	0.612000													20	48					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004523	197004523	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:197004523C>G	ENST00000263955.4	-	7	943	c.656_splice	c.e7-1	p.W219_splice	STK17B_ENST00000409228.1_Splice_Site_p.W219_splice	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	219	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TACCAATATTCCTGAAAAACA	0.313000													4	27					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87033303	87033303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:87033303C>T	ENST00000370563.3	+	7	1193	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	384	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAGGAACTTCCATCTGCTCT	0.353000													9	21					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916134	131916134	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:131916134C>T	ENST00000286355.5	-	7	3887	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	599					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATCTTCAGGCAAGGAC	0.478000										HNSCC(32;0.087)			10	84					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753913	48753913	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:48753913C>A	ENST00000285238.8	+	23	3422	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1114	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCACTGTGGTCATCCTGCCCC	0.592000													41	82					4.32679e-17	4.98084e-17	1	1	0
NIPAL1	152519	broad.mit.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398000													13	38					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312712	86312712	+	Silent	SNP	G	G	A	rs145878071	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:86312712G>A	ENST00000337975.5	-	2	604	c.330C>T	c.(328-330)atC>atT	p.I110I	KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	110	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGTTGATGGCGATGCGTGAGG	0.607000													23	51					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040883	147040883	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147040883C>A	ENST00000265272.5	-	3	722	c.255G>T	c.(253-255)ctG>ctT	p.L85L	JAKMIP2_ENST00000333010.6_Silent_p.L43L|JAKMIP2_ENST00000507386.1_Silent_p.L85L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	85						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCTGCAGCTCCTTCA	0.537000													42	143					6.2361e-21	7.23486e-21	1	1	0
ADRBK1	156	broad.mit.edu	37	11	67051382	67051382	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67051382A>T	ENST00000308595.5	+	17	1743	c.1453A>T	c.(1453-1455)Att>Ttt	p.I485F	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	485	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCCTTCGACATTGGCTCCTT	0.622000													9	10					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:113860273C>A	ENST00000504030.2	+	9	1670	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000375498.2_Silent_p.R415R|HTR3A_ENST00000535865.1_Silent_p.R153R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637000													87	61					2.96794e-49	3.48411e-49	1	1	0
AP4M1	9179	broad.mit.edu	37	7	99699579	99699579	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99699579C>A	ENST00000429084.1	+	2	293	c.135C>A	c.(133-135)tcC>tcA	p.S45S	AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S|AP4M1_ENST00000478501.1_3'UTR			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	45					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACGAGTCCCCGGTTGTCA	0.682000													12	47					4.36969e-10	4.84253e-10	1	1	0
EEF1A1	1915	broad.mit.edu	37	6	74228666	74228666	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:74228666G>C	ENST00000316292.9	-	3	1601	c.610C>G	c.(610-612)Cca>Gca	p.P204A	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	204						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTAGCACTTGGCTCCAGCATG	0.428000											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	36					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230395	56230395	+	Silent	SNP	A	A	G	rs145912919	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:56230395A>G	ENST00000279791.1	-	1	482	c.483T>C	c.(481-483)acT>acC	p.T161T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAAGCCATAAGTCCATAGTG	0.428000													17	49					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140393939	140393939	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:140393939A>G	ENST00000305626.5	+	2	738	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTATGATATGACCAACATGGC	0.408000													15	32					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716543	142716543	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:142716543C>T	ENST00000381779.4	-	2	2607	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLITRK4_ENST00000338017.4_Silent_p.L794L|SLITRK4_ENST00000356928.1_Silent_p.L794L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	794						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCTATCAGTGACTTCT	0.408000													12	77					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513633	142513633	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:142513633C>G	ENST00000378004.3	+	19	2155	c.1800C>G	c.(1798-1800)ccC>ccG	p.P600P	ARHGAP26_ENST00000274498.4_Silent_p.P600P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	600	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGAGGCCCCTGACGCTCT	0.577000													26	93					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915214	119915214	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:119915214G>C	ENST00000331113.4	+	1	1493	c.528G>C	c.(526-528)gaG>gaC	p.E176D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	176					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGCCTTCGAGAACCCCCACA	0.617000													16	38					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234944	21234944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:21234944C>T	ENST00000233242.1	-	26	4923	c.4796G>A	c.(4795-4797)cGt>cAt	p.R1599H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1599					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R1599H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTCAGAACGCAGCAGTGC	0.413000													7	40					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222600	27222600	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:27222600T>A	ENST00000230582.3	+	10	1294	c.1279T>A	c.(1279-1281)Tcc>Acc	p.S427T	PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	427					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGAACTCCTACTACGG	0.567000													24	88					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387299	122387299	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:122387299C>A	ENST00000264357.5	+	3	706	c.414C>A	c.(412-414)gtC>gtA	p.V138V	GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371251.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Silent_p.V138V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	138					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGCAGTTTGTCATCCAGATGC	0.512000													21	116					0.000132079	0.000137159	1	1	0
TTF2	8458	broad.mit.edu	37	1	117619276	117619276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:117619276G>C	ENST00000369466.3	+	7	1448	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	468					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTAATGAGAAGAGTAACAGTC	0.507000													9	78					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:31500330G>A	ENST00000358743.1	+	21	2919	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	RP3-412A9.10_ENST00000504335.1_RNA|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	878	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627000													12	86					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531481	97531481	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97531481G>A	ENST00000305476.5	-	5	474	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	114	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGGAAGCGGATGAAGTTGA	0.612000													6	40					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64813997	64813997	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:64813997G>T	ENST00000332707.5	+	7	1166	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	213	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGGGGCTTATGTCTCTTGGAT	0.333000													12	39					7.03913e-09	7.63e-09	1	1	0
RIPK3	11035	broad.mit.edu	37	14	24806948	24806948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:24806948C>A	ENST00000216274.5	-	7	1071	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	285	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGGAAGACTTCATCAGTTTTT	0.527000													4	18					0.184627	0.185251	1	1	0
TOPORS	10210	broad.mit.edu	37	9	32542610	32542610	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:32542610C>G	ENST00000360538.2	-	3	2029	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	638	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCTCCCTCTAGGTCTGCT	0.423000													31	93					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27132839	27132839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:27132839C>T	ENST00000343028.4	-	9	1292	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	356						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCCACCGACGCTTCCAGTGAC	0.502000													11	36					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34610823	34610823	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:34610823C>A	ENST00000290209.5	-	1	157	c.57G>T	c.(55-57)tcG>tcT	p.S19S	SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000458406.2_Intron	NM_005135.2	NP_005126.1	Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	72					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGAGAGATCGAAGCCGCTG	0.428000													11	39					6.42651e-13	7.31293e-13	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99912207	99912207	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:99912207G>T	ENST00000332397.6	+	6	1219	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	345										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCAAAAGGAAGAGGGAGTGTT	0.577000													14	28					3.51602e-12	3.97056e-12	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121612621	121612621	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:121612621C>A	ENST00000393386.2	+	4	742	c.331C>A	c.(331-333)Cgt>Agt	p.R111S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	111	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAATGACTACCGTGTCAGCGG	0.333000													12	29					2.27111e-07	2.40043e-07	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139601678	139601678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:139601678G>C	ENST00000303045.6	-	65	5145	c.4699C>G	c.(4699-4701)Ccc>Gcc	p.P1567A	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTCCCCGGGTTGACCTGGC	0.577000										HNSCC(7;0.00092)			3	15					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976017	44976017	+	Silent	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:44976017A>T	ENST00000340446.4	-	1	465	c.174T>A	c.(172-174)acT>acA	p.T58T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	58						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTTGTCCAAGTTTGCTGAA	0.423000													16	73					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17942116	17942116	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:17942116C>G	ENST00000458235.1	-	21	2998	c.2899G>C	c.(2899-2901)Gac>Cac	p.D967H	JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	967	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGCCGAAGTCAGCGATCTTG	0.657000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								26	130					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798666	39798666	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:39798666C>T	ENST00000564288.1	+	37	7183	c.6406C>T	c.(6406-6408)Cct>Tct	p.P2136S	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2141					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATACCTCCTGCTGAGGC	0.463000													21	26					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409906	79409906	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:79409906C>T	ENST00000307745.7	+	9	1531	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S																								TCACCAGGACCCGCTGGGCGG	0.657000													6	32					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5932699	5932699	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:5932699G>A	ENST00000378896.3	+	2	415	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MCM8_ENST00000378886.2_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378883.1_Missense_Mutation_p.G13E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	13					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTGGACGAGGAAGATTTCAA	0.403000													11	39					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7861342	7861342	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:7861342A>G	ENST00000264669.5	-	6	1940	c.1804T>C	c.(1804-1806)Tgc>Cgc	p.C602R	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	602	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATTGGAGCAAAACCTTTTT	0.299000													12	48					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68269783	68269783	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:68269783C>G	ENST00000473183.2	-	1	704	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	56					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ACTTGCCAAACTAGGAGGATT	0.682000													3	16					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806327	115806327	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:115806327G>C	ENST00000374227.3	-	4	598	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAGTGATCAGGTAAATCTAAA	0.313000													13	22					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116632226	116632226	+	Missense_Mutation	SNP	G	G	C	rs61758125		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:116632226G>C	ENST00000395715.3	-	3	676	c.99C>G	c.(97-99)atC>atG	p.I33M	TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M|TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	20					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGCTCCAGGATCTGGCCCT	0.448000									Langer-Giedion syndrome				26	58					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42557000	42557000	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:42557000A>C	ENST00000318522.5	+	23	2861	c.2599A>C	c.(2599-2601)Aag>Cag	p.K867Q	EML4_ENST00000401738.3_Missense_Mutation_p.K878Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000453191.2_Missense_Mutation_p.K131Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	867					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTGTGGAAAAGTTATCTTT	0.443000			T	ALK	NSCLC								32	77					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271897	50271897	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:50271897C>G	ENST00000284509.6	-	12	1092	c.951G>C	c.(949-951)aaG>aaC	p.K317N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	317					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACAGAGCTCTTCTCTCCTT	0.368000													12	50					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66973251	66973251	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:66973251C>G	ENST00000317091.4	+	3	1589	c.605C>G	c.(604-606)tCt>tGt	p.S202C	CES2_ENST00000417689.1_Missense_Mutation_p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	138					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CATGAAGGCTCTAACCTGCCG	0.537000													22	67					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19087047	19087047	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19087047G>A	ENST00000321998.5	+	4	438	c.372G>A	c.(370-372)gcG>gcA	p.A124A	COQ7_ENST00000544894.2_Silent_p.A86A|COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	124	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCCAGGGGCGGGGACCGCCT	0.557000													16	51					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248181	42248181	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:42248181C>T	ENST00000293414.1	+	1	108	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	8					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCCCCTTCACCTCCTCCA	0.687000													29	41					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876853	64876853	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:64876853G>A	ENST00000279281.3	+	6	1637	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CTGGGGAGAAGGGGGGTGCCA	0.622000													28	38					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518252	37518252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:37518252C>T	ENST00000432825.2	-	9	2432	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	795						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATTGCCCCGGAGCTCCAC	0.582000													10	25					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451205	138451205	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:138451205C>T	ENST00000344876.4	-	1	2424	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGACTCTGCATATTCAAAG	0.423000													31	104					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575787	119575787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:119575787G>A	ENST00000235521.4	-	6	856	c.830C>T	c.(829-831)gCg>gTg	p.A277V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	277					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GGCATGCACCGCCACTATGTT	0.637000													13	58					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146276246	146276246	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:146276246C>T	ENST00000367503.3	-	2	611	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	71					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGAACACCTCTTCTTATCTC	0.388000													8	64					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:107427549C>G	ENST00000428149.2	-	3	461	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353000													29	19					0	0	1	0	0
SCRT1	83482	broad.mit.edu	37	8	145557311	145557311	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:145557311C>T	ENST00000332135.4	-	2	694	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TTGCCGCACTCGCCGCACGCG	0.786000													4	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564577	176564577	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:176564577C>G	ENST00000367662.3	+	3	3001	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587000													11	65					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25390488	25390488	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:25390488C>G	ENST00000315368.3	+	7	641	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AATTATTAAGCTCTTGGGAGA	0.294000													6	23					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183963045	183963045	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:183963045G>A	ENST00000455059.1	-	4	880	c.426C>T	c.(424-426)ctC>ctT	p.L142L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000397676.3_Silent_p.L182L|ALG3_ENST00000445626.2_Silent_p.L134L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	182					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTGAGGAAGAGCAGCACCA	0.552000													4	35					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000514814.1_Silent_p.L176L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269000													4	13					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107350640	107350640	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107350640A>G	ENST00000265715.3	+	19	2455	c.2231A>G	c.(2230-2232)gAa>gGa	p.E744G	SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	744					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCATTTTAGAAACGGTAAAT	0.343000									Pendred syndrome				5	22					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129133	83129133	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:83129133A>C	ENST00000329312.4	+	4	1454	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	473					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGATGACAAAAAGAAGGA	0.358000													3	12					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30528404	30528404	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30528404G>T	ENST00000356798.6	+	26	3153	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	991					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGAGCGTGCAGATGGTGAGTG	0.632000													32	99					3.69857e-22	4.30774e-22	1	1	0
UBAC2	337867	broad.mit.edu	37	13	100020049	100020049	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:100020049G>C	ENST00000376440.2	+	6	1214	c.711G>C	c.(709-711)atG>atC	p.M237I	UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	272						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAGGAATGATCAATTGGA	0.448000													5	20					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62374514	62374514	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:62374514G>C	ENST00000394773.2	-	12	1727	c.1420C>G	c.(1420-1422)Ctc>Gtc	p.L474V	EML3_ENST00000278845.4_Missense_Mutation_p.L475V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000531557.1_Missense_Mutation_p.L257V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	474						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCAGTGAGAATGTCTCCA	0.552000													27	90					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825505	4825505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:4825505C>T	ENST00000380382.1	-	1	342	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATACGTGGCACAGAACGGA	0.512000													6	21					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55917836	55917836	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:55917836G>T	ENST00000371263.3	+	12	1120	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	337					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGGACCAAATGAAACTTGACA	0.333000								Editing and processing nucleases					3	15					1	1	1	1	0
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	947					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358000													10	33					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76694913	76694913	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:76694913C>T	ENST00000589297.1	-	8	1203	c.511G>A	c.(511-513)Gag>Aag	p.E171K	CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K			Q15438	CYH1_HUMAN	cytohesin 1	230	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CGGAGGAGCTCCTCCGGCAGG	0.488000													58	128					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642273	167642273	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:167642273G>A	ENST00000519204.1	+	20	3829	c.3711G>A	c.(3709-3711)ccG>ccA	p.P1237P	TENM2_ENST00000520394.1_Silent_p.P1119P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000545108.1_Silent_p.P1357P					teneurin transmembrane protein 2																		TGATGAGCCCGAGAGGTAAAG	0.537000													17	51					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77873011	77873011	+	Silent	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:77873011T>A	ENST00000298358.3	-	4	737	c.738A>T	c.(736-738)ccA>ccT	p.P246P	NOXRED1_ENST00000380835.2_Intron			Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	0					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAGATAGCAATGGGCCAACAG	0.443000													15	42					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67410682	67410682	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67410682G>A	ENST00000329956.6	+	11	1732	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	571										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527000													22	81					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147824762	147824762	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:147824762T>C	ENST00000513335.1	-	7	797	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TTC29_ENST00000398886.4_Missense_Mutation_p.K200E|TTC29_ENST00000325106.4_Missense_Mutation_p.K174E			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	174							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTCAATTTTGATCAGCTGA	0.438000													4	7					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444820	71444820	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:71444820C>G	ENST00000304743.2	+	6	2212	c.1766C>G	c.(1765-1767)aCc>aGc	p.T589S	PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	589						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTCTGGTACCAAGCCACAC	0.478000													15	54					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32148967	32148967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:32148967G>A	ENST00000375076.4	-	11	1269	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375065.5_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	390					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCGACTGATTCAGTTCT	0.572000													62	206					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717249	25717249	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:25717249C>T	ENST00000349320.3	-	7	1132	c.744G>A	c.(742-744)aaG>aaA	p.K248K	RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	264						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCTGATCTTCCTTTGGG	0.557000													36	100					0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46731459	46731459	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:46731459G>A	ENST00000566860.1	+	6	861	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	241					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						AAAAATTTTGGAAAATGCTGC	0.398000													10	22					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72102335	72102335	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:72102335C>G	ENST00000425175.1	+	2	159	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	14						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTTCCTTCCTCAAGCATGTGT	0.423000													6	34					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482979	100482979	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:100482979C>T	ENST00000388793.4	+	10	1522	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	435					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTCCCGGGCCGAGATCATCT	0.652000													13	44					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530254	80530254	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:80530254G>T	ENST00000295057.3	-	2	1347	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.R231C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGATGAGGCGCGGGAAGTGG	0.582000										HNSCC(69;0.2)			25	73					1.42536e-11	1.60353e-11	1	1	0
PTPN7	5778	broad.mit.edu	37	1	202124662	202124662	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:202124662C>G	ENST00000309017.3	-	5	1555	c.783_splice	c.e5+1	p.R261_splice	PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	156	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCCACTCACTCGGATGTAGTT	0.547000													8	20					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947115	101947115	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:101947115G>A	ENST00000394854.3	-	14	2156	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000507176.1_Silent_p.P393P|PPP3CA_ENST00000523694.2_Silent_p.P424P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	491					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCGTCAGAGGGCATGGCAT	0.493000													30	118					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809784	215809784	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215809784G>C	ENST00000272895.7	-	49	7503	c.7284C>G	c.(7282-7284)ctC>ctG	p.L2428L	ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2428	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCCAGAGGTGCCGTT	0.383000													4	24					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132627407	132627407	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132627407G>C	ENST00000397333.3	-	3	574	c.536C>G	c.(535-537)cCa>cGa	p.P179R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	179					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGCCACCTTGGCAGGAAAGG	0.572000													15	68					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092152	147092152	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:147092152C>G	ENST00000234739.3	+	8	2931	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	731	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCCAACTCTCAGATGATACC	0.537000			T	"""IGH@, IGL@"""	B-ALL								9	24					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852510	215852510	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:215852510G>A	ENST00000272895.7	-	27	4056	c.3837C>T	c.(3835-3837)taC>taT	p.Y1279Y	ABCA12_ENST00000389661.4_Silent_p.Y961Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1279					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCCATACCGTATGTCCCTG	0.413000													5	12					0	0	1	0	0
SPINK14	408187	broad.mit.edu	37	5	147553847	147553847	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:147553847C>G	ENST00000356972.1	+	3	162	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	54	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						ATGGAACGGTCAACCCCTGCC	0.413000													16	19					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160464244	160464244	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160464244C>A	ENST00000356956.1	+	12	1693	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	515					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGCATTTTTTCATTAATATTT	0.478000													23	62					2.89027e-11	3.2271e-11	1	1	0
HAO1	54363	broad.mit.edu	37	20	7886943	7886943	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:7886943A>G	ENST00000378789.3	-	4	630	c.579T>C	c.(577-579)ttT>ttC	p.F193F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	193	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCAGGAGAAAATGATAAAG	0.343000													3	16					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62226518	62226518	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:62226518C>A	ENST00000261517.5	-	49	5841	c.5768G>T	c.(5767-5769)tGg>tTg	p.W1923L	VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1923					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGTCTGTCCAATCTTCTTG	0.274000													13	49					2.27111e-07	2.40043e-07	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	16					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858861	28858861	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:28858861G>A	ENST00000373833.6	+	7	725	c.441_splice	c.e7+1	p.R147_splice	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	147					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTTCCGGGTAAGGCTG	0.547000													12	37					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250445	1250445	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:1250445C>T	ENST00000348261.5	+	7	1241	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	331					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGGGGGTGGGCGCTGCACGCA	0.662000													7	31					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411137	121411137	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:121411137C>G	ENST00000393667.3	-	14	7184	c.7074G>C	c.(7072-7074)aaG>aaC	p.K2358N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2353					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATAACTGAACTTAGAATTTT	0.368000													11	34					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205073025	205073025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:205073025C>T	ENST00000264515.6	-	5	623	c.482G>A	c.(481-483)aGg>aAg	p.R161K	RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	161					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCCCCTCGCCTATCAAAAGA	0.433000													25	93					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794056	14794056	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:14794056C>T	ENST00000261170.3	-	18	2164	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	676	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGTTTCTTTCCGCAGGATGA	0.522000													12	22					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:49481247G>T	ENST00000323798.3	-	10	1438	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542000													21	51					1.00905e-13	1.15264e-13	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103483409	103483409	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:103483409G>A	ENST00000358392.2	-	11	1733	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	COL11A1_ENST00000512756.1_Silent_p.G344G|COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	460	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCAGTGGGGCCTTGTAGAC	0.388000													31	59					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797497	127797497	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:127797497C>G	ENST00000556132.1	-	6	2538	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H	SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	558						integral to membrane											ATCTGTACTTCTGGAGCTCGT	0.493000													15	65					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26881104	26881104	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:26881104G>C	ENST00000374168.2	+	9	785	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	211	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAGCAAAGAGGCCATTGA	0.602000													26	162					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679473	75679473	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:75679473G>T	ENST00000370855.5	-	22	1992	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGAAGGCCAGAACACCTACA	0.363000													14	46					1.5842e-08	1.70474e-08	1	1	0
MIF4GD	57409	broad.mit.edu	37	17	73265430	73265430	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:73265430C>G	ENST00000577542.1	-	3	465	c.203G>C	c.(202-204)aGa>aCa	p.R68T	MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000325102.8_Intron			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	27	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGACAAACCTCTGTACTGCGT	0.498000													11	65					0	0	1	0	0
MRPL42	28977	broad.mit.edu	37	12	93873187	93873187	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:93873187C>A	ENST00000549982.1	+	4	319	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	53					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.S53C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GCTCTGACTTCTGATGGCAGG	0.323000													8	14					1.58986e-06	1.66264e-06	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68822821	68822821	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:68822821G>A	ENST00000294309.3	+	4	530		c.e4+1		TPCN2_ENST00000542467.1_Splice_Site|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTGTGAAGGTGAGGCGGGC	0.672000													22	24					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56762881	56762881	+	Splice_Site	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:56762881A>C	ENST00000381295.2	+	16	2301		c.e16-1		EXOC1_ENST00000349598.6_Splice_Site|EXOC1_ENST00000346134.7_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCTAACTTTAGAGTAACCAA	0.303000													9	19					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154360714	154360714	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:154360714A>G	ENST00000414028.2	+	1	85	c.35A>G	c.(34-36)aAt>aGt	p.N12S	OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	12					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACGCCAGCAATTGCACTGAT	0.632000													6	26					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124454085	124454085	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:124454085A>G	ENST00000232607.2	+	2	408	c.302A>G	c.(301-303)aAg>aGg	p.K101R	UMPS_ENST00000536109.1_Missense_Mutation_p.K9R|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	101	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AAAGAAACAAAGGATTATGGT	0.338000													4	12					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17366690	17366690	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:17366690T>A	ENST00000380647.3	+	13	2046	c.1962T>A	c.(1960-1962)aaT>aaA	p.N654K	CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	654						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATTGAATAGATGTGTGG	0.269000													5	22					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275545	73275545	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:73275545C>G	ENST00000320531.2	+	1	57	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	7						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTCCTCCAGTCAGATCCAGCC	0.617000													16	49					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9712819	9712819	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:9712819G>A	ENST00000296003.4	+	6	764	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MTMR14_ENST00000351233.5_Silent_p.L214L|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	214						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGTGACCTGATGGTGGAGA	0.458000													12	32					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379208	17379208	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:17379208G>C	ENST00000242057.4	+	10	2402	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	587					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTATGTCCAAGATTCTTTAAG	0.393000													18	71					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751494	140751494	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140751494C>T	ENST00000576222.1	+	1	1664	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGGAGCGGGGTGGTGT	0.667000													13	72					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428702	48428702	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:48428702A>G	ENST00000224605.2	-	2	1449	c.1184T>C	c.(1183-1185)aTc>aCc	p.I395T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	395					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTTCGGTGAGATTATCCATTC	0.532000													11	46					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356559	2356559	+	RNA	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:2356559C>G	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TGCATTTTCTCAATAAGTTCT	0.393000													6	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8959696	8959696	+	Missense_Mutation	SNP	C	C	T	rs61748893		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:8959696C>T	ENST00000397910.4	-	84	43639	c.43436G>A	c.(43435-43437)cGc>cAc	p.R14479H	MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22124	SEA 16.			Missing (in Ref. 3; AAK74120).	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						CTTCCGCCGGCGGGTGGTCAC	0.577000													6	10					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422660	31422660	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:31422660G>A	ENST00000389202.2	+	14	1578	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	510					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGTTCTCCGTGGTGAGCAG	0.637000													45	144					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109919583	109919583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:109919583C>T	ENST00000218054.4	-	12	1443	c.1247G>A	c.(1246-1248)tGg>tAg	p.W416*	CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	410					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAAGATCTTCCACTGGCCTAA	0.458000													8	45					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328856	28328856	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:28328856C>T	ENST00000341901.4	+	2	933	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCCAGCGACGTCACCAAGC	0.637000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	49					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:49416416C>T	ENST00000301067.7	-	51	16294	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R5162Q(1)									CACCTCGTTCCGAATGATGGT	0.552000													52	151					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925925	57925925	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:57925925G>C	ENST00000574161.1	+	8	1038	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		307					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGCTGATTGAGCGCATGGA	0.502000													9	60					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544861	35544861	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:35544861G>C	ENST00000536438.1	-	11	1491	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000357266.4_Silent_p.S392S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	392					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTGGCACATGGAGATCTGCA	0.517000													26	68					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13055849	13055849	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:13055849T>A	ENST00000506447.1	+	19	3340	c.3260T>A	c.(3259-3261)aTg>aAg	p.M1087K	CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	682										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAACGGGCTATGGAAAAATTG	0.363000													13	29					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191258	68191258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:68191258G>A	ENST00000551171.1	+	4	461	c.137G>A	c.(136-138)gGc>gAc	p.G46D	RDH12_ENST00000539142.1_Missense_Mutation_p.G46D|RDH12_ENST00000267502.3_Missense_Mutation_p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	46					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GTGATCACTGGCGCCAACACG	0.542000													18	59					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086737	110086737	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:110086737G>C	ENST00000527748.1	+	2	1776	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGCTCCAGAGGAGGAGCT	0.567000													28	32					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:72299451G>T	ENST00000263563.6	+	15	2109	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGCCAGCACCGCAGGGCCTGT	0.662000													22	86					3.5997e-14	4.12784e-14	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55996672	55996672	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:55996672A>G	ENST00000373965.2	-	9	1290	c.896T>C	c.(895-897)aTt>aCt	p.I299T	PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	299	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCGTAACAATAATGGGGTT	0.408000										HNSCC(58;0.16)			23	57					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156236414	156236414	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:156236414G>A	ENST00000361813.5	-	11	1317	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	391					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATGATTGACGAGGTGGGAAA	0.582000													16	48					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112023	57112023	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:57112023T>C	ENST00000454682.1	-	3	3572	c.3291A>G	c.(3289-3291)ccA>ccG	p.P1097P	NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTGGGGGATGGGGTAGCTG	0.662000			T	BCL6	NHL								24	61					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892531	219892531	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:219892531G>T	ENST00000341552.5	-	13	2135	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I|CCDC108_ENST00000409865.3_Silent_p.I673I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	684						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCACCATGATCTTGCCCT	0.622000													7	41					0.00307968	0.00315402	1	1	0
EDC4	23644	broad.mit.edu	37	16	67914646	67914646	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:67914646G>C	ENST00000358933.5	+	18	2523	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	762					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCTGCACCAGAGGGCCTTGA	0.657000													45	173					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637000													17	54					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233408064	233408064	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:233408064G>T	ENST00000389494.3	+	8	906	c.885G>T	c.(883-885)gtG>gtT	p.V295V	CHRNG_ENST00000389492.3_Silent_p.V243V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	295					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCAAGAAGGTGCCTGAAACCT	0.592000													13	33					7.03913e-09	7.63e-09	1	1	0
MGAM	8972	broad.mit.edu	37	7	141736626	141736626	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:141736626C>A	ENST00000475668.2	+	18	2134	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCCAGGACCAGGATCCTGC	0.488000													40	115					7.53189e-24	8.80698e-24	1	1	0
PIGG	54872	broad.mit.edu	37	4	493239	493239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:493239G>C	ENST00000453061.2	+	1	221	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000504346.1_Intron|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	39					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCCAGAGCGGAACACGGAGC	0.652000													5	13					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792304	38792304	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:38792304C>G	ENST00000310803.5	-	14	1897	c.1720_splice	c.e14+1	p.D574_splice	RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	574					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGTCTTACCTTTACATCGA	0.428000													17	63					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967826	48967826	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:48967826A>T	ENST00000391884.1	+	2	1579	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	368						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCTGGATGAACGGGCAGAG	0.557000													12	52					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217509	26217509	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:26217509A>T	ENST00000303910.2	+	1	345	c.307A>T	c.(307-309)Atc>Ttc	p.I103F		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	103					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGTGACCATCGCGCAGGG	0.577000													19	69					0	0	1	0	0
PFDN4	5203	broad.mit.edu	37	20	52830980	52830980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:52830980G>A	ENST00000371419.2	+	2	369	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	39					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCTGAAGGAAGAAATAGAAGT	0.284000													4	11					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160525931	160525931	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:160525931A>T	ENST00000356956.1	+	48	7439	c.7291A>T	c.(7291-7293)Agc>Tgc	p.S2431C	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2431					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGGGCAGAGAGCTCCCACCC	0.607000													22	78					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42198105	42198105	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:42198105C>T	ENST00000373100.1	+	7	769	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000341458.4_Silent_p.F163F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	163	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACTCCTTCCAGACACCTG	0.617000													16	46					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558224	149558224	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:149558224C>G	ENST00000223210.4	+	7	2220	c.1975C>G	c.(1975-1977)Ctg>Gtg	p.L659V		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTACATCACTCTGGCCCCTCT	0.587000													4	23					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48798592	48798592	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:48798592G>C	ENST00000314191.2	-	37	4742	c.4686C>G	c.(4684-4686)ttC>ttG	p.F1562L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1563					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCGTTTCTGAGAACAAGCTAT	0.473000								Non-homologous end-joining					12	126					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692621	107692621	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107692621C>G	ENST00000388781.3	-	26	3920	c.3837G>C	c.(3835-3837)aaG>aaC	p.K1279N	LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N|LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1279	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCTTCATTCTTTGCTCTTT	0.358000													15	55					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:123594531T>A	ENST00000340011.5	+	3	1264	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGTTTTTGCATATACCCGCAT	0.403000													8	26					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400146	139400146	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr9:139400146C>T	ENST00000277541.6	-	25	4277	c.4202G>A	c.(4201-4203)gGg>gAg	p.G1401E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1401	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACAGGTCCCCTGGTTGTA	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	9					0	0	1	0	0
SNHG24	101929369	broad.mit.edu	37	14	101441178	101441178	+	RNA	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:101441178T>A	ENST00000554693.2	+	0	462				SNORD114-17_ENST00000364699.1_RNA																							ATTGGAGTTATGGACGATGAA	0.373000													14	33					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33049326	33049326	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:33049326C>T	ENST00000311388.3	+	3	908	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	187					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						caactcccctcatgtaaatat	0.363000													5	12					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52840499	52840499	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:52840499C>T	ENST00000371568.3	-	16	2592	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	792	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACGTGGCTTCCTCCAGTCCT	0.433000													3	23					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17598725	17598725	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:17598725G>A	ENST00000226299.4	+	9	1319	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	349					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GCCGGGGGATGTTGTTAGAGC	0.502000													7	65					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382442	153382442	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:153382442C>G	ENST00000351797.4	-	10	1157	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	361							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCAGTATTTTCTGCTTCCGAC	0.383000													22	92					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672165	186672165	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:186672165G>T	ENST00000343098.5	+	17	18399	c.18399G>T	c.(18397-18399)ctG>ctT	p.L6133L	FSIP2_ENST00000424728.1_Silent_p.L6044L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACAGAACTGAATTTCCTTC	0.338000													11	52					1.5842e-08	1.70474e-08	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209569	140209569	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140209569C>A	ENST00000529310.1	+	1	2007	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGATCAGCACCACTC	0.672000													18	103					1.56452e-12	1.77353e-12	1	1	0
C14orf79	122616	broad.mit.edu	37	14	105452973	105452973	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:105452973C>G	ENST00000547315.1	+	1	844	c.205C>G	c.(205-207)Cct>Gct	p.P69A		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	69										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGCCCGATGTCCTGACCCTGG	0.582000													19	49					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736230	49736230	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:49736230G>C	ENST00000327697.6	+	9	757	c.613G>C	c.(613-615)Gat>Cat	p.D205H	RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	205	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTGACCTGGATGATGGCAC	0.622000													6	33					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216398	20216398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:20216398T>C	ENST00000331723.1	+	1	812	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATAAGATATTCTCCTTG	0.433000													14	49					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126754881	126754881	+	Missense_Mutation	SNP	A	A	G	rs79671291		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:126754881A>G	ENST00000274473.6	+	12	1642	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E|MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	459	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTGGCTGTAAAAATGATGC	0.463000													23	77					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48603047	48603047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:48603047C>T	ENST00000342988.3	+	11	1886	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	450	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCAGCAGCAGGCGGCTAC	0.468000													13	25					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:57241994G>T	ENST00000537866.1	+	3	1248	c.375G>T	c.(373-375)atG>atT	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294000													11	66					4.36969e-10	4.84253e-10	1	1	0
TARBP1	6894	broad.mit.edu	37	1	234556462	234556462	+	Missense_Mutation	SNP	G	G	C	rs147943473	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:234556462G>C	ENST00000040877.1	-	21	3540	c.3541C>G	c.(3541-3543)Cct>Gct	p.P1181A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1181					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAAGTCTAGGGAAAAGTACC	0.358000													4	44					0	0	1	0	0
TCTE3	6991	broad.mit.edu	37	6	170143280	170143280	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:170143280C>T	ENST00000366774.3	-	3	482	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	128					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTGCCAATTCAAGTGACAAG	0.294000													7	40					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132399963	132399963	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:132399963C>G	ENST00000321867.4	+	18	1957	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	536					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCCTCGTCCAGGTGGGTG	0.632000													12	22					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1												p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672000													36	95					0	0	1	0	0
ID2	3398	broad.mit.edu	37	2	8822472	8822472	+	Silent	SNP	G	G	A	rs149826728	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:8822472G>A	ENST00000234091.4	+	3	1037	c.177G>A	c.(175-177)gtG>gtA	p.V59V	ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	59	Helix-loop-helix motif.				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAGAAGGTGAGCAAGATGG	0.547000													21	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	40					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41213250	41213250	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:41213250G>A	ENST00000372652.1	+	3	418	c.150G>A	c.(148-150)aaG>aaA	p.K50K	NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	50					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTATTAAGAAGATTATGAAAC	0.378000													5	19					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28234814	28234814	+	Splice_Site	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr15:28234814T>A	ENST00000354638.3	-	11	1272		c.e11-2		OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTCTCTGCAATCAAAG	0.572000									Oculocutaneous Albinism				7	30					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29827930	29827930	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:29827930C>G	ENST00000320330.6	+	1	646	c.84C>G	c.(82-84)ctC>ctG	p.L28L	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CCTCCGGCCTCCAGGCTCTGG	0.687000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527623	97527623	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527623G>A	ENST00000305476.5	-	13	1584	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	484	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGGCAAAGAGCAGCTTCT	0.682000													4	17					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	64001429	64001429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:64001429C>A	ENST00000321685.3	+	6	1056	c.591C>A	c.(589-591)taC>taA	p.Y197*	DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_3'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	197					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CAGCCTTCTACAACGAAGCCC	0.542000													8	112					0.000442599	0.000458021	1	1	0
ANK2	287	broad.mit.edu	37	4	114274830	114274830	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:114274830G>A	ENST00000357077.4	+	38	5109	c.5056G>A	c.(5056-5058)Gag>Aag	p.E1686K	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1653					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCCAGATGAGACACAGAG	0.443000													6	45					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209167	67209167	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:67209167T>G	ENST00000545016.1	-	4	576	c.491A>C	c.(490-492)cAc>cCc	p.H164P	CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGGGGTCCGTGGGGGGGGGG	0.657000													4	13					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640							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)		CCCGTCCACTGAAGGTGAAGG	0.537000													12	32					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605222	116605222	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr10:116605222C>T	ENST00000369248.4	+	8	1445	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FAM160B1_ENST00000369250.3_Silent_p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	370										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGATCAGCTCATTAAGGAAG	0.308000													6	15					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:114682285C>T	ENST00000393296.1	-	2	541	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000369547.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622000													21	26					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161455314	161455314	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:161455314C>T	ENST00000392142.4	+	2	324	c.176C>T	c.(175-177)tCa>tTa	p.S59L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	59					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTGGGAGATTCAGCTTGCAAG	0.398000													12	38					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900541	900541	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:900541G>A	ENST00000338591.3	+	12	2006	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	633	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATCCTCCCCGACGCTGTCCG	0.667000													19	39					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895204	36895204	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:36895204C>T	ENST00000310758.4	-	22	2783	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P	ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396045.3_Silent_p.P232P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000448602.1_Silent_p.P712P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	712					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGGGAATCGGCGGAGGTG	0.567000													14	73					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920071	108920071	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:108920071G>A	ENST00000228284.3	-	16	2409	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	SART3_ENST00000431469.2_Silent_p.L689L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	725	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCCTCGAAGAGTGGCCTGA	0.567000									Porokeratosis				15	72					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78267146	78267146	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:78267146C>G	ENST00000370791.3	+	3	358	c.326C>G	c.(325-327)cCa>cGa	p.P109R	FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	109						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCATGGGAACCAGAGCACCTC	0.358000													9	24					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129770191	129770191	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:129770191C>T	ENST00000226319.6	+	5	633	c.353C>T	c.(352-354)tCa>tTa	p.S118L	PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		118					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACATCGTGTCATCAGGCTCT	0.517000													23	56					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46136150	46136150	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:46136150C>G	ENST00000536630.1	-	9	1058	c.920G>C	c.(919-921)aGa>aCa	p.R307T	EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T|EML2_ENST00000587152.1_Missense_Mutation_p.R361T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	160					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACACGGCTCTGTCAAACAC	0.617000													6	22					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111160475	111160475	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:111160475G>T	ENST00000360467.5	+	47	5094	c.4788G>T	c.(4786-4788)ccG>ccT	p.P1596P	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1596	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGAGGCCCCGGCCATCGCCA	0.607000													5	49					5.9392e-07	6.23301e-07	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82058607	82058607	+	Missense_Mutation	SNP	T	T	A	rs143281279		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:82058607T>A	ENST00000395578.1	-	13	1690	c.1574A>T	c.(1573-1575)tAt>tTt	p.Y525F	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	525	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTATACATACTTATTGTC	0.363000													18	55					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75675857	75675857	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:75675857C>G	ENST00000395743.3	-	4	714	c.354G>C	c.(352-354)caG>caC	p.Q118H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	118					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCACCAGAATCTGTCCTCTGT	0.378000													30	75					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132063882	132063882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr3:132063882G>C	ENST00000336375.5	+	7	850	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q|ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	254						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAAGCAGAAAGAGAAATCTAG	0.438000													13	23					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35107450	35107450	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr21:35107450C>G	ENST00000381318.3	+	5	575	c.287C>G	c.(286-288)tCt>tGt	p.S96C	ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	96	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCTACCCTCTGCACTTCCC	0.398000													15	72					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79912025	79912025	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:79912025G>A	ENST00000344726.5	-	5	357	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HMGN3_ENST00000275036.7_Intron	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	77					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTTCAGATGGTGCAGTACCT	0.418000													19	99					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3448490	3448490	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:3448490G>C	ENST00000301365.4	-	3	326	c.195C>G	c.(193-195)tcC>tcG	p.S65S	TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	65						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCATGGGCTTGGAGAAGACAG	0.592000													6	37					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978661	50978661	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:50978661A>G	ENST00000600100.1	-	3	824	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	154										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGGACTGGAGGCTGCCACC	0.642000													3	16					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060365	130060365	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr11:130060365C>A	ENST00000278742.5	+	7	1069	c.651C>A	c.(649-651)ggC>ggA	p.G217G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	217	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGGCCTGCACGCCC	0.711000													10	94					0.00621372	0.00634183	1	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993392	96993392	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:96993392C>G	ENST00000361124.4	+	1	1458	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	ITPRIPL1_ENST00000542887.1_Silent_p.L333L|ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	341						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTTAAACTCAGTCTCCCAC	0.572000													14	68					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71082580	71082580	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:71082580T>A	ENST00000452400.2	-	6	579	c.398A>T	c.(397-399)gAa>gTa	p.E133V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	133	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACGTTGCCTTCCAGGTTCAC	0.393000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	4					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32161047	32161047	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr22:32161047G>A	ENST00000400246.1	+	5	421		c.e5+1		DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site			O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACCCTAAGGTATGTCTTTG	0.388000													7	30					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018456	176018456	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:176018456C>A	ENST00000510636.1	+	30	3979	c.3705C>A	c.(3703-3705)ctC>ctA	p.L1235L	CDHR2_ENST00000506348.1_Silent_p.L1235L|CDHR2_ENST00000261944.5_Silent_p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1235					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGAGTACCTCTCTCCCTCCA	0.602000													18	62					6.94344e-10	7.66618e-10	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158472660	158472660	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:158472660C>T	ENST00000409339.3	-	11	1251	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	380					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGAGCTCTTCAAACTGT	0.433000													10	80					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527348	97527348	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:97527348G>A	ENST00000305476.5	-	14	1772	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	547	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGATGCCTGAAGTGTCCGA	0.557000													32	102					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132645203	132645203	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:132645203T>A	ENST00000367963.3	-	7	1098	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	327					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATTGTGTAAAATAACCT	0.398000													14	45					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628032	19628032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:19628032C>T	ENST00000438132.3	+	14	1441	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	376						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTCCAGAACCAGCTGGTGGT	0.512000													10	35					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634736	80634736	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:80634736G>A	ENST00000369816.4	-	3	602	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	101					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGCATTATATGATCCCATGAA	0.279000													6	25					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167343140	167343140	+	Missense_Mutation	SNP	C	C	T	rs146590748	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:167343140C>T	ENST00000366855.6	-	10	1268	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q			O00584	RNT2_HUMAN	ribonuclease T2	236					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	p.R236L(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TCTCAGACCCCGGCTCTCGGC	0.542000													14	275					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905831	83905831	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr4:83905831G>C	ENST00000340417.3	-	2	544	c.167C>G	c.(166-168)tCt>tGt	p.S56C	LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000505397.1_Missense_Mutation_p.S56C	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	56					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S56C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CGTGGCTGTAGAGTCACCAGT	0.408000													10	52					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155538268	155538268	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:155538268A>T	ENST00000401878.3	+	14	3149	c.2951A>T	c.(2950-2952)aAg>aTg	p.K984M		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	984							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATCAGCTCCAAGGTCAGGGTG	0.522000													4	12					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61510333	61510333	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:61510333C>A	ENST00000398571.2	-	37	5021	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338000													4	24					1.024e-07	1.09399e-07	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	46					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752053	247752053	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:247752053G>A	ENST00000320065.1	+	1	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGTCTGCCGTCCTCTCCAT	0.552000													21	131					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921699	213921699	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:213921699G>A	ENST00000457361.1	-	4	432	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000421754.2_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000413091.3_Silent_p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527000													14	62					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30792496	30792496	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr12:30792496A>G	ENST00000256079.4	-	21	2780	c.2442T>C	c.(2440-2442)acT>acC	p.T814T	IPO8_ENST00000544829.1_Silent_p.T609T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	814					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAAACTGTACAGTGATAGGTC	0.383000													18	47					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168475980	168475980	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr6:168475980C>T	ENST00000283309.6	-	2	313	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FRMD1_ENST00000440994.2_Silent_p.V15V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	83	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTTGCACACTTGCTGGA	0.632000													13	89					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766863	57766863	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr20:57766863C>G	ENST00000371030.2	+	1	789	c.789C>G	c.(787-789)acC>acG	p.T263T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	263						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGTGAGGACCGAAGCTGCTC	0.657000													17	62					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1463913	1463913	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527000													24	135					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302876	162302876	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:162302876C>A	ENST00000361897.5	+	5	816	c.414C>A	c.(412-414)agC>agA	p.S138R	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	138	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGGTGCCAGCAATATCTTCA	0.433000													6	30					0.0215528	0.021847	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388000													6	12					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850916	22850916	+	Silent	SNP	C	C	T	rs139786086		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:22850916C>T	ENST00000404138.1	+	18	4015	c.3504C>T	c.(3502-3504)gcC>gcT	p.A1168A	ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1168					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCAGGCCGCAGCCTCAC	0.552000													23	42					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47972622	47972622	+	Silent	SNP	G	G	A	rs138080210		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:47972622G>A	ENST00000319275.3	+	5	399	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SSX6_ENST00000376932.2_Silent_p.P109P																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GAATCATCCCGAAGGTGAGTA	0.423000													22	54					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049882	239049882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr2:239049882G>C	ENST00000409223.1	+	2	594	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	163	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGAACTTTGAGGCTGTGGC	0.652000													5	22					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154831	12154831	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:12154831G>T	ENST00000602107.1	-	5	1525	c.1526C>A	c.(1525-1527)tCt>tAt	p.S509Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388000													5	25					0.014758	0.0150107	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144398195	144398195	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr8:144398195T>C	ENST00000523676.1	-	12	1543	c.1138A>G	c.(1138-1140)Aag>Gag	p.K380E	TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	478					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCATCGACTTCTCGAACGTA	0.607000													17	143					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949319	32949319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr18:32949319G>A	ENST00000306346.1	-	4	999	c.868C>T	c.(868-870)Cga>Tga	p.R290*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	290					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATTGCGCTTCGGCTGAATGCC	0.448000													10	32					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002435	3002435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:3002435G>C	ENST00000381127.1	+	6	779	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ARSF_ENST00000359361.2_Missense_Mutation_p.E186D|ARSF_ENST00000537104.1_Missense_Mutation_p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGCCTTTGAGAGTCAGCTCT	0.527000													12	65					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226714	27226714	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:27226714C>T	ENST00000361720.5	-	1	243	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	74						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCCTCAGCGGCTGGG	0.642000													18	66					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675494	64675494	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:64675494G>A	ENST00000357395.3	+	102	18519	c.7375G>A	c.(7375-7377)Gaa>Aaa	p.E2459K	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000555022.1_5'UTR|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6074					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGAGATATTGAACAACACAG	0.517000													15	40					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599431	57599431	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:57599431T>C	ENST00000217133.1	+	4	1218	c.949T>C	c.(949-951)Ttc>Ctc	p.F317L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	317					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCTGCATTTTCCGGGGCAA	0.597000													5	54					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107707040	107707040	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107707040G>C	ENST00000388781.3	-	20	2535	c.2452C>G	c.(2452-2454)Cac>Gac	p.H818D	LAMB4_ENST00000388780.3_Missense_Mutation_p.H818D|LAMB4_ENST00000205386.4_Missense_Mutation_p.H818D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	818	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGATGGCAGTGACATGCTGGA	0.527000													3	16					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055746	75055746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:75055746G>T	ENST00000326665.5	-	12	1963	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S385*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	582	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGATGAGGTTGATGAAGCAGT	0.383000													9	11					1.12685e-05	1.18201e-05	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138451204	138451204	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:138451204G>A	ENST00000344876.4	-	1	2425	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	PCDH18_ENST00000412923.2_Missense_Mutation_p.A680V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACCGACTCTGCATATTCAAA	0.428000													31	104					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	G	A	rs78186669		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:145360584G>A	ENST00000342960.5	+	74	9244	c.9209G>A	c.(9208-9210)gGg>gAg	p.G3070E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3070										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483000													3	17					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891917	42891917	+	Missense_Mutation	SNP	G	G	A	rs111998272	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:42891917G>A	ENST00000342560.5	+	4	683	c.595G>A	c.(595-597)Gag>Aag	p.E199K	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E7K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	199	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCATGAAGAGGAGCCCCA	0.552000													13	257					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389445	22389445	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:22389445G>C	ENST00000334304.5	-	19	4118	c.3849C>G	c.(3847-3849)ctC>ctG	p.L1283L	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1283					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGGCCAAGTTGAGGCCATAAG	0.433000													7	45					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233349	104233349	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:104233349T>C	ENST00000238936.4	+	8	1185	c.948T>C	c.(946-948)caT>caC	p.H316H	TMEM180_ENST00000366277.2_Silent_p.H45H	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	316						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGCTCCCCATCTCAACAACC	0.632000													38	148					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255478	16255478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16255478C>T	ENST00000375759.3	+	11	2947	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	915					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCTGGACCAGAAACTTCA	0.443000													16	229					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32134035	32134035	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:32134035C>T	ENST00000395512.1	+	2	198	c.93C>T	c.(91-93)ctC>ctT	p.L31L	EGFL8_ENST00000333845.6_Silent_p.L31L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Intron			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	31						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GTGGATCCCTCAGAGAGAGGT	0.592000													7	38					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160245808	160245808	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:160245808C>G	ENST00000334256.4	-	8	794	c.489G>C	c.(487-489)ctG>ctC	p.L163L		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	163	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGAGAAGCCTCAGGAAAAGTG	0.358000													10	28					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838669	55838669	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:55838669A>G	ENST00000302000.6	-	3	906	c.812T>C	c.(811-813)aTt>aCt	p.I271T	PYGO1_ENST00000563719.1_Missense_Mutation_p.I271T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	271	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTTAATTCAATATTACTCTG	0.383000													24	80					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838251	100838251	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:100838251T>C	ENST00000369208.3	-	12	3069	c.2287A>G	c.(2287-2289)Acc>Gcc	p.T763A	SIM1_ENST00000262901.4_Missense_Mutation_p.T763A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	763	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTCCGTTGGTTATTATAACA	0.393000													17	56					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855171	22855171	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:22855171G>T	ENST00000283645.4	+	13	1762	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R544S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	544					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTCCAGCAGGCAGCACACCA	0.502000													19	48					1.33834e-09	1.47611e-09	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1053787	1053787	+	Splice_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:1053787A>T	ENST00000263094.6	+	25	3655	c.3423_splice	c.e25-1	p.I1142_splice	ABCA7_ENST00000435683.2_Splice_Site_p.I1004_splice|ABCA7_ENST00000433129.1_Splice_Site_p.I1142_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1142					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCCCAGATCTTCCTGAA	0.642000													25	57					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433375	138433375	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:138433375T>C	ENST00000477593.1	-	8	1310	c.1237A>G	c.(1237-1239)Acg>Gcg	p.T413A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.T413A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GATTTCTTCGTTTTTACTTTA	0.318000													4	18					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038258	139038258	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:139038258G>T	ENST00000370540.1	-	3	906	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	295						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGTAGGTTTTGAGTGTTTTTC	0.388000													33	59					2.80507e-11	3.16361e-11	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12316413	12316413	+	Missense_Mutation	SNP	G	G	C	rs148067811		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:12316413G>C	ENST00000358136.3	+	8	823	c.693G>C	c.(691-693)gaG>gaC	p.E231D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E231D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	231					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGCATGGAGAGTCGCAGCC	0.537000													17	156					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:39885673G>C	ENST00000260356.5	+	19	3236	c.3071G>C	c.(3070-3072)gGa>gCa	p.G1024A		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTATGCTGGATTTGTCTTT	0.517000													19	171					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850106	73850106	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:73850106G>A	ENST00000523207.1	+	3	3104	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	839					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GATAAGCCTAGTGATGGGAGA	0.522000													39	58					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186980391	186980391	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:186980391G>A	ENST00000337774.5	-	3	744	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	MASP1_ENST00000392472.2_Missense_Mutation_p.R6W|MASP1_ENST00000169293.6_Missense_Mutation_p.R119W|MASP1_ENST00000392470.2_Missense_Mutation_p.R93W|MASP1_ENST00000296280.6_Missense_Mutation_p.R119W|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	119	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AAATCTGACCGGAAAGTGATG	0.557000													15	63					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76422537	76422537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:76422537C>A	ENST00000600087.1	+	1	129	c.129C>A	c.(127-129)taC>taA	p.Y43*	DNAH17_ENST00000586052.1_Splice_Site|DNAH17_ENST00000585328.1_Splice_Site|DNAH17_ENST00000389840.5_Splice_Site																							ACGGCACTTACCCTGATGCGG	0.632000													15	7					1.05317e-09	1.16587e-09	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30528404	30528404	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:30528404G>T	ENST00000356798.6	+	26	3153	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q907H|ITGAL_ENST00000433423.2_Missense_Mutation_p.Q225H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	991					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGAGCGTGCAGATGGTGAGTG	0.632000													32	99					3.69857e-22	4.33426e-22	1	1	0
BMP5	653	broad.mit.edu	37	6	55739531	55739531	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:55739531T>G	ENST00000370830.3	-	1	831	c.133A>C	c.(133-135)Aac>Cac	p.N45H	BMP5_ENST00000446683.2_Missense_Mutation_p.N45H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463000													24	68					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938300	169938300	+	Translation_Start_Site	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:169938300A>T	ENST00000421653.1	+	0	293				DHRS9_ENST00000412271.1_Missense_Mutation_p.K70M|DHRS9_ENST00000357546.2_Missense_Mutation_p.K70M|DHRS9_ENST00000428522.1_Missense_Mutation_p.K70M|DHRS9_ENST00000327239.4_Missense_Mutation_p.K70M|DHRS9_ENST00000602501.1_Missense_Mutation_p.K70M|DHRS9_ENST00000436483.2_Missense_Mutation_p.K70M|DHRS9_ENST00000432060.2_Missense_Mutation_p.K130M			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCTTTAAAGGCAGAAACC	0.483000													21	51					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159315	1159315	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:1159315C>T	ENST00000356191.2	+	16	1283	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTTCCATGCCCGGGTACCTGC	0.637000													4	42					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69279634	69279634	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:69279634G>C	ENST00000551568.1	-	3	256	c.196C>G	c.(196-198)Cca>Gca	p.P66A	CPM_ENST00000338356.3_Missense_Mutation_p.P66A|CPM_ENST00000546373.1_Missense_Mutation_p.P66A	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	66					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTTCCTTTGGAAACCGCCCC	0.408000													11	44					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815131	117815131	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:117815131G>C	ENST00000276204.6	+	50	5856	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1928Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1928	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAAAACTGCAGAGCTGCAAAA	0.403000													18	37					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478000													26	98					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825504	4825504	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:4825504G>T	ENST00000380382.1	-	1	343	c.344C>A	c.(343-345)gCc>gAc	p.A115D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36D			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCATACGTGGCACAGAACGG	0.512000													6	20					0.00307968	0.00316405	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141263009	141263009	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:141263009G>A	ENST00000389328.4	-	16	2606	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	TRAPPC9_ENST00000389327.3_Silent_p.F757F|TRAPPC9_ENST00000438773.2_Silent_p.F766F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	766					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCAGCTCAAGAAGTCGCCAT	0.448000													8	51					0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9186809	9186809	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:9186809C>G	ENST00000327827.7	+	2	655	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	86										endometrium(4)|large_intestine(2)|lung(2)	8						GACTTTCTCTCTGGGTCCCCT	0.463000													4	12					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508372	123508372	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:123508372A>T	ENST00000223026.4	+	3	683	c.45A>T	c.(43-45)caA>caT	p.Q15H	HYAL4_ENST00000476325.1_Missense_Mutation_p.Q15H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	15					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GTGTTGTTCAACCAGTACATC	0.343000													10	37					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35280093	35280093	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:35280093G>A	ENST00000316637.5	+	4	443	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	146						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AATACCTGCTGAAAAAGGTAC	0.612000													20	48					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004523	197004523	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:197004523C>G	ENST00000263955.4	-	7	943	c.656_splice	c.e7-1	p.W219_splice	STK17B_ENST00000409228.1_Splice_Site_p.W219_splice	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	219	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TACCAATATTCCTGAAAAACA	0.313000													4	27					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87033303	87033303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:87033303C>T	ENST00000370563.3	+	7	1193	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CLCA4_ENST00000263723.5_Missense_Mutation_p.S97F	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	384	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAGGAACTTCCATCTGCTCT	0.353000													9	21					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916134	131916134	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:131916134C>T	ENST00000286355.5	-	7	3887	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E599K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	599					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACGATATCTTCAGGCAAGGAC	0.478000										HNSCC(32;0.087)			10	84					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753913	48753913	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:48753913C>A	ENST00000285238.8	+	23	3422	c.3342C>A	c.(3340-3342)gtC>gtA	p.V1114V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1114	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCACTGTGGTCATCCTGCCCC	0.592000													41	82					4.32679e-17	5.01173e-17	1	1	0
NIPAL1	152519	broad.mit.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398000													13	38					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312712	86312712	+	Silent	SNP	G	G	A	rs145878071	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:86312712G>A	ENST00000337975.5	-	2	604	c.330C>T	c.(328-330)atC>atT	p.I110I	KLHL25_ENST00000536947.1_Silent_p.I110I|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	110	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CGTTGATGGCGATGCGTGAGG	0.607000													23	51					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040883	147040883	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:147040883C>A	ENST00000265272.5	-	3	722	c.255G>T	c.(253-255)ctG>ctT	p.L85L	JAKMIP2_ENST00000507386.1_Silent_p.L85L|JAKMIP2_ENST00000333010.6_Silent_p.L43L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	85						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACAGCCTGCAGCTCCTTCA	0.537000													42	143					6.2361e-21	7.2795e-21	1	1	0
ADRBK1	156	broad.mit.edu	37	11	67051382	67051382	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:67051382A>T	ENST00000308595.5	+	17	1743	c.1453A>T	c.(1453-1455)Att>Ttt	p.I485F	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	485	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCCTTCGACATTGGCTCCTT	0.622000													9	10					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:113860273C>A	ENST00000504030.2	+	9	1670	c.1225C>A	c.(1225-1227)Cgg>Agg	p.R409R	HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000375498.2_Silent_p.R415R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637000													87	61					2.96794e-49	3.50544e-49	1	1	0
AP4M1	9179	broad.mit.edu	37	7	99699579	99699579	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:99699579C>A	ENST00000429084.1	+	2	293	c.135C>A	c.(133-135)tcC>tcA	p.S45S	AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000421755.1_Silent_p.S45S|AP4M1_ENST00000359593.4_Silent_p.S45S			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	45					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGACGAGTCCCCGGTTGTCA	0.682000													12	47					4.36969e-10	4.87326e-10	1	1	0
EEF1A1	1915	broad.mit.edu	37	6	74228666	74228666	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:74228666G>C	ENST00000316292.9	-	3	1601	c.610C>G	c.(610-612)Cca>Gca	p.P204A	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P204A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P204A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	204						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTAGCACTTGGCTCCAGCATG	0.428000											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	36					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230395	56230395	+	Silent	SNP	A	A	G	rs145912919	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:56230395A>G	ENST00000279791.1	-	1	482	c.483T>C	c.(481-483)acT>acC	p.T161T		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAAGCCATAAGTCCATAGTG	0.428000													17	49					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140393939	140393939	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:140393939A>G	ENST00000305626.5	+	2	738	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	117					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GTATGATATGACCAACATGGC	0.408000													15	32					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716543	142716543	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:142716543C>T	ENST00000381779.4	-	2	2607	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLITRK4_ENST00000356928.1_Silent_p.L794L|SLITRK4_ENST00000338017.4_Silent_p.L794L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	794						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCTATCAGTGACTTCT	0.408000													12	77					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513633	142513633	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:142513633C>G	ENST00000378004.3	+	19	2155	c.1800C>G	c.(1798-1800)ccC>ccG	p.P600P	ARHGAP26_ENST00000274498.4_Silent_p.P600P	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	600	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGAGGCCCCTGACGCTCT	0.577000													26	93					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915214	119915214	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:119915214G>C	ENST00000331113.4	+	1	1493	c.528G>C	c.(526-528)gaG>gaC	p.E176D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	176					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGCCTTCGAGAACCCCCACA	0.617000													16	38					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234944	21234944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:21234944C>T	ENST00000233242.1	-	26	4923	c.4796G>A	c.(4795-4797)cGt>cAt	p.R1599H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1599					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R1599H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTCAGAACGCAGCAGTGC	0.413000													7	40					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222600	27222600	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:27222600T>A	ENST00000230582.3	+	10	1294	c.1279T>A	c.(1279-1281)Tcc>Acc	p.S427T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.S170T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	427					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCAGACGAACTCCTACTACGG	0.567000													24	88					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387299	122387299	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:122387299C>A	ENST00000264357.5	+	3	706	c.414C>A	c.(412-414)gtC>gtA	p.V138V	GRIA3_ENST00000542149.1_Silent_p.V138V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Silent_p.V122V|GRIA3_ENST00000371256.5_Silent_p.V138V|GRIA3_ENST00000371251.1_Silent_p.V138V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	138					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGCAGTTTGTCATCCAGATGC	0.512000													21	116					0.000132079	0.000137582	1	1	0
TTF2	8458	broad.mit.edu	37	1	117619276	117619276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:117619276G>C	ENST00000369466.3	+	7	1448	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	468					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTAATGAGAAGAGTAACAGTC	0.507000													9	78					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	21					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31500330	31500330	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr22:31500330G>A	ENST00000358743.1	+	21	2919	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SMTN_ENST00000347557.2_Missense_Mutation_p.E878K|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|RP3-412A9.10_ENST00000504335.1_RNA	NM_134270.2	NP_599032.2	P53814	SMTN_HUMAN	smoothelin	878	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCCTGGTGGAGGTGGACGA	0.627000													12	86					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531481	97531481	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97531481G>A	ENST00000305476.5	-	5	474	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	114	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGGAAGCGGATGAAGTTGA	0.612000													6	40					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105452973	105452973	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:105452973C>G	ENST00000547315.1	+	1	844	c.205C>G	c.(205-207)Cct>Gct	p.P69A		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	69										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGCCCGATGTCCTGACCCTGG	0.582000													19	49					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64813997	64813997	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:64813997G>T	ENST00000332707.5	+	7	1166	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	213	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGGGGCTTATGTCTCTTGGAT	0.333000													12	39					7.03913e-09	7.67905e-09	1	1	0
RIPK3	11035	broad.mit.edu	37	14	24806948	24806948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:24806948C>A	ENST00000216274.5	-	7	1071	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	285	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGGAAGACTTCATCAGTTTTT	0.527000													4	18					0.184627	0.185245	1	1	0
TOPORS	10210	broad.mit.edu	37	9	32542610	32542610	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:32542610C>G	ENST00000360538.2	-	3	2029	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	TOPORS_ENST00000379858.1_Missense_Mutation_p.R573T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	638	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCTCCCTCTAGGTCTGCT	0.423000													31	93					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27132839	27132839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:27132839C>T	ENST00000343028.4	-	9	1292	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	356						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCCACCGACGCTTCCAGTGAC	0.502000													11	36					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34610823	34610823	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:34610823C>A	ENST00000290209.5	-	1	157	c.57G>T	c.(55-57)tcG>tcT	p.S19S	SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000354181.3_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Intron	NM_005135.2	NP_005126.1	Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	72					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTGAGAGATCGAAGCCGCTG	0.428000													11	39					6.42651e-13	7.3586e-13	1	1	0
SPDYE3	441272	broad.mit.edu	37	7	99912207	99912207	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:99912207G>T	ENST00000332397.6	+	6	1219	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	345										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GCAAAAGGAAGAGGGAGTGTT	0.577000													14	28					3.51602e-12	3.99547e-12	1	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	8					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129133	83129133	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:83129133A>C	ENST00000329312.4	+	4	1454	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	473					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAGATGACAAAAAGAAGGA	0.358000													3	12					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612621	121612621	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:121612621C>A	ENST00000393386.2	+	4	742	c.331C>A	c.(331-333)Cgt>Agt	p.R111S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R111S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	111	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAATGACTACCGTGTCAGCGG	0.333000													12	29					2.27111e-07	2.41607e-07	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139601678	139601678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:139601678G>C	ENST00000303045.6	-	65	5145	c.4699C>G	c.(4699-4701)Ccc>Gcc	p.P1567A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1547A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1567	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTCCCCGGGTTGACCTGGC	0.577000										HNSCC(7;0.00092)			3	15					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976017	44976017	+	Silent	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:44976017A>T	ENST00000340446.4	-	1	465	c.174T>A	c.(172-174)acT>acA	p.T58T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	58						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTTGTCCAAGTTTGCTGAA	0.423000													16	73					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17942116	17942116	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:17942116C>G	ENST00000458235.1	-	21	2998	c.2899G>C	c.(2899-2901)Gac>Cac	p.D967H	JAK3_ENST00000534444.1_Missense_Mutation_p.D967H|JAK3_ENST00000527670.1_Missense_Mutation_p.D967H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	967	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGCCGAAGTCAGCGATCTTG	0.657000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								26	130					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798666	39798666	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:39798666C>T	ENST00000564288.1	+	37	7183	c.6406C>T	c.(6406-6408)Cct>Tct	p.P2136S	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2173S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P576S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2141S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2141					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATACCTCCTGCTGAGGC	0.463000													21	26					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409906	79409906	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:79409906C>T	ENST00000307745.7	+	9	1531	c.1531C>T	c.(1531-1533)Ccg>Tcg	p.P511S																								TCACCAGGACCCGCTGGGCGG	0.657000													6	32					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5932699	5932699	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:5932699G>A	ENST00000378896.3	+	2	415	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MCM8_ENST00000378883.1_Missense_Mutation_p.G13E|MCM8_ENST00000265187.4_Missense_Mutation_p.G13E|MCM8_ENST00000378886.2_Missense_Mutation_p.G13E	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	13					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTGGACGAGGAAGATTTCAA	0.403000													11	39					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7861342	7861342	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:7861342A>G	ENST00000264669.5	-	6	1940	c.1804T>C	c.(1804-1806)Tgc>Cgc	p.C602R	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	602	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTATTGGAGCAAAACCTTTTT	0.299000													12	48					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68269783	68269783	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:68269783C>G	ENST00000473183.2	-	1	704	c.166G>C	c.(166-168)Gtt>Ctt	p.V56L	ESRP2_ENST00000565858.1_Missense_Mutation_p.V56L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	56					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						ACTTGCCAAACTAGGAGGATT	0.682000													3	16					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806327	115806327	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:115806327G>C	ENST00000374227.3	-	4	598	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ZFP37_ENST00000555206.1_Missense_Mutation_p.P192A|ZFP37_ENST00000553380.1_Missense_Mutation_p.P206A			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAGTGATCAGGTAAATCTAAA	0.313000													13	22					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116632226	116632226	+	Missense_Mutation	SNP	G	G	C	rs61758125		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:116632226G>C	ENST00000395715.3	-	3	676	c.99C>G	c.(97-99)atC>atG	p.I33M	TRPS1_ENST00000519674.1_Missense_Mutation_p.I20M|TRPS1_ENST00000220888.5_Missense_Mutation_p.I20M|TRPS1_ENST00000519076.1_Missense_Mutation_p.I20M|TRPS1_ENST00000520276.1_Missense_Mutation_p.I24M	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	20					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGCTCCAGGATCTGGCCCT	0.448000									Langer-Giedion syndrome				26	58					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42557000	42557000	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:42557000A>C	ENST00000318522.5	+	23	2861	c.2599A>C	c.(2599-2601)Aag>Cag	p.K867Q	EML4_ENST00000453191.2_Missense_Mutation_p.K131Q|EML4_ENST00000402711.2_Missense_Mutation_p.K809Q|EML4_ENST00000401738.3_Missense_Mutation_p.K878Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	867					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTGTGGAAAAGTTATCTTT	0.443000			T	ALK	NSCLC								32	77					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50271897	50271897	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:50271897C>G	ENST00000284509.6	-	12	1092	c.951G>C	c.(949-951)aaG>aaC	p.K317N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K317N|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	317					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACAGAGCTCTTCTCTCCTT	0.368000													12	50					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66973251	66973251	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:66973251C>G	ENST00000317091.4	+	3	1589	c.605C>G	c.(604-606)tCt>tGt	p.S202C	CES2_ENST00000417689.1_Missense_Mutation_p.S202C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	138					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CATGAAGGCTCTAACCTGCCG	0.537000													22	67					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19087047	19087047	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:19087047G>A	ENST00000321998.5	+	4	438	c.372G>A	c.(370-372)gcG>gcA	p.A124A	COQ7_ENST00000569127.1_Silent_p.A101A|COQ7_ENST00000568985.1_Silent_p.A124A|COQ7_ENST00000544894.2_Silent_p.A86A	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	124	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TCCCAGGGGCGGGGACCGCCT	0.557000													16	51					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248181	42248181	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:42248181C>T	ENST00000293414.1	+	1	108	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	8					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTCCCCTTCACCTCCTCCA	0.687000													29	41					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876853	64876853	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:64876853G>A	ENST00000279281.3	+	6	1637	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CTGGGGAGAAGGGGGGTGCCA	0.622000													28	38					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518252	37518252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:37518252C>T	ENST00000432825.2	-	9	2432	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R320Q	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	795						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATTGCCCCGGAGCTCCAC	0.582000													10	25					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451205	138451205	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:138451205C>T	ENST00000344876.4	-	1	2424	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	PCDH18_ENST00000412923.2_Missense_Mutation_p.A680T|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.A460T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	680	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGACTCTGCATATTCAAAG	0.423000													31	104					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575787	119575787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:119575787G>A	ENST00000235521.4	-	6	856	c.830C>T	c.(829-831)gCg>gTg	p.A277V	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.A183V	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	277					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GGCATGCACCGCCACTATGTT	0.637000													13	58					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146276246	146276246	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:146276246C>T	ENST00000367503.3	-	2	611	c.213G>A	c.(211-213)aaG>aaA	p.K71K	SHPRH_ENST00000438092.2_Silent_p.K71K|SHPRH_ENST00000367505.2_Silent_p.K71K|SHPRH_ENST00000275233.7_Silent_p.K71K	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	71					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTGAACACCTCTTCTTATCTC	0.388000													8	64					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107427549	107427549	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:107427549C>G	ENST00000428149.2	-	3	461	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ALKBH8_ENST00000389568.3_Missense_Mutation_p.E104Q|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E104Q|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E107Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	104	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	p.E104*(2)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCCACTACTTCTTTTCCATTG	0.353000													29	19					0	0	1	0	0
SCRT1	83482	broad.mit.edu	37	8	145557311	145557311	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:145557311C>T	ENST00000332135.4	-	2	694	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TTGCCGCACTCGCCGCACGCG	0.786000													4	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564577	176564577	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:176564577C>G	ENST00000367662.3	+	3	3001	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGTGACTGCCGCCTGCAGGG	0.587000													11	65					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25390488	25390488	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:25390488C>G	ENST00000315368.3	+	7	641	c.499C>G	c.(499-501)Ctc>Gtc	p.L167V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L167V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AATTATTAAGCTCTTGGGAGA	0.294000													6	23					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183963045	183963045	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:183963045G>A	ENST00000455059.1	-	4	880	c.426C>T	c.(424-426)ctC>ctT	p.L142L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Silent_p.L126L|ALG3_ENST00000445626.2_Silent_p.L134L|ALG3_ENST00000397676.3_Silent_p.L182L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	182					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTGAGGAAGAGCAGCACCA	0.552000													4	35					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824348	64824348	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:64824348G>C	ENST00000396679.1	-	9	742	c.528C>G	c.(526-528)ctC>ctG	p.L176L	CENPK_ENST00000514814.1_Silent_p.L176L|CENPK_ENST00000242872.3_Silent_p.L176L|CENPK_ENST00000510693.1_Silent_p.L113L|CENPK_ENST00000508421.1_Silent_p.L146L|CENPK_ENST00000506282.2_5'UTR	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	176					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AGGTACTCAAGAGTTTCTCCT	0.269000													4	13					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107350640	107350640	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107350640A>G	ENST00000265715.3	+	19	2455	c.2231A>G	c.(2230-2232)gAa>gGa	p.E744G	SLC26A4_ENST00000544569.1_Missense_Mutation_p.E331G|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E313G|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E305G	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	744					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCATTTTAGAAACGGTAAAT	0.343000									Pendred syndrome				5	22					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	7					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42198105	42198105	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:42198105C>T	ENST00000373100.1	+	7	769	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SGK2_ENST00000426287.1_Silent_p.F129F|SGK2_ENST00000373092.3_Silent_p.F103F|SGK2_ENST00000373077.1_Silent_p.F102F|SGK2_ENST00000423407.3_Silent_p.F103F|SGK2_ENST00000341458.4_Silent_p.F163F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	163	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACTCCTTCCAGACACCTG	0.617000													16	46					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	100020049	100020049	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:100020049G>C	ENST00000376440.2	+	6	1214	c.711G>C	c.(709-711)atG>atC	p.M237I	UBAC2_ENST00000403766.3_Missense_Mutation_p.M272I|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	272						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGGAGGAATGATCAATTGGA	0.448000													5	20					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62374514	62374514	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:62374514G>C	ENST00000394773.2	-	12	1727	c.1420C>G	c.(1420-1422)Ctc>Gtc	p.L474V	EML3_ENST00000531557.1_Missense_Mutation_p.L257V|EML3_ENST00000529309.1_Missense_Mutation_p.L474V|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.L446V|EML3_ENST00000278845.4_Missense_Mutation_p.L475V	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	474						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCAGTGAGAATGTCTCCA	0.552000													27	90					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825505	4825505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:4825505C>T	ENST00000380382.1	-	1	342	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A36T			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATACGTGGCACAGAACGGA	0.512000													6	21					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55917836	55917836	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:55917836G>T	ENST00000371263.3	+	12	1120	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	SPO11_ENST00000345868.4_Missense_Mutation_p.M299I|SPO11_ENST00000371260.4_Missense_Mutation_p.M295I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	337					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGGACCAAATGAAACTTGACA	0.333000								Editing and processing nucleases					3	15					1	1	1	1	0
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	947					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358000													10	33					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76694913	76694913	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:76694913C>T	ENST00000589297.1	-	8	1203	c.511G>A	c.(511-513)Gag>Aag	p.E171K	CYTH1_ENST00000585509.1_Missense_Mutation_p.E171K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E230K|CYTH1_ENST00000446868.3_Missense_Mutation_p.E230K|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.E230K			Q15438	CYH1_HUMAN	cytohesin 1	230	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CGGAGGAGCTCCTCCGGCAGG	0.488000													58	128					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642273	167642273	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:167642273G>A	ENST00000519204.1	+	20	3829	c.3711G>A	c.(3709-3711)ccG>ccA	p.P1237P	TENM2_ENST00000545108.1_Silent_p.P1357P|TENM2_ENST00000518659.1_Silent_p.P1358P|TENM2_ENST00000403607.2_Silent_p.P1182P|TENM2_ENST00000520394.1_Silent_p.P1119P					teneurin transmembrane protein 2																		TGATGAGCCCGAGAGGTAAAG	0.537000													17	51					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77873011	77873011	+	Silent	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:77873011T>A	ENST00000298358.3	-	4	737	c.738A>T	c.(736-738)ccA>ccT	p.P246P	NOXRED1_ENST00000380835.2_Intron			Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	0					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAGATAGCAATGGGCCAACAG	0.443000													15	42					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67410682	67410682	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:67410682G>A	ENST00000329956.6	+	11	1732	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	LRRC36_ENST00000563189.1_Silent_p.P450P|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	571										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527000													22	81					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147824762	147824762	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:147824762T>C	ENST00000513335.1	-	7	797	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TTC29_ENST00000325106.4_Missense_Mutation_p.K174E|TTC29_ENST00000398886.4_Missense_Mutation_p.K200E			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	174							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAGTCAATTTTGATCAGCTGA	0.438000													4	7					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444820	71444820	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:71444820C>G	ENST00000304743.2	+	6	2212	c.1766C>G	c.(1765-1767)aCc>aGc	p.T589S	PCNX_ENST00000238570.5_Missense_Mutation_p.T589S|PCNX_ENST00000439984.3_Missense_Mutation_p.T589S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	589						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTCTGGTACCAAGCCACAC	0.478000													15	54					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32148967	32148967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:32148967G>A	ENST00000375076.4	-	11	1269	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	AGER_ENST00000375067.3_Missense_Mutation_p.S338L|AGER_ENST00000438221.2_3'UTR|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375070.3_Nonsense_Mutation_p.Q421*|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375069.3_Nonsense_Mutation_p.Q280*	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	390					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCGACTGATTCAGTTCT	0.572000													62	206					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717249	25717249	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:25717249C>T	ENST00000349320.3	-	7	1132	c.744G>A	c.(742-744)aaG>aaA	p.K248K	RHCE_ENST00000294413.7_Silent_p.K264K|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.K264K|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000425135.1_Silent_p.K264K|RHCE_ENST00000413854.1_Silent_p.K264K|RHCE_ENST00000349438.4_Silent_p.K264K|RHCE_ENST00000374352.2_Silent_p.K248K|RHCE_ENST00000346452.4_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	264						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCTGATCTTCCTTTGGG	0.557000													36	100					0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46731459	46731459	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:46731459G>A	ENST00000566860.1	+	6	861	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E241K|ORC6_ENST00000575571.1_3'UTR			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	241					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						AAAAATTTTGGAAAATGCTGC	0.398000													10	22					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72102335	72102335	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:72102335C>G	ENST00000425175.1	+	2	159	c.42C>G	c.(40-42)ctC>ctG	p.L14L	SLC4A4_ENST00000264485.5_Silent_p.L14L|SLC4A4_ENST00000351898.6_Silent_p.L14L	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	14						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTTCCTTCCTCAAGCATGTGT	0.423000													6	34					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482979	100482979	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:100482979C>T	ENST00000388793.4	+	10	1522	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	SRRT_ENST00000347433.4_Silent_p.A435A|SRRT_ENST00000457580.2_Silent_p.A435A|SRRT_ENST00000432932.1_Silent_p.A434A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	435					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCTCCCGGGCCGAGATCATCT	0.652000													13	44					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530254	80530254	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:80530254G>T	ENST00000295057.3	-	2	1347	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R231S|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	231						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.R231C(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGATGAGGCGCGGGAAGTGG	0.582000										HNSCC(69;0.2)			25	73					1.42536e-11	1.61361e-11	1	1	0
PTPN7	5778	broad.mit.edu	37	1	202124662	202124662	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:202124662C>G	ENST00000309017.3	-	5	1555	c.783_splice	c.e5+1	p.R261_splice	PTPN7_ENST00000308986.5_Splice_Site_p.R156_splice|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000367279.4_Splice_Site_p.R195_splice	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	156	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCCACTCACTCGGATGTAGTT	0.547000													8	20					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947115	101947115	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:101947115G>A	ENST00000394854.3	-	14	2156	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	PPP3CA_ENST00000512215.1_Silent_p.P259P|PPP3CA_ENST00000523694.2_Silent_p.P424P|PPP3CA_ENST00000323055.6_Silent_p.P439P|PPP3CA_ENST00000394853.4_Silent_p.P481P|PPP3CA_ENST00000507176.1_Silent_p.P393P	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	491					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCGTCAGAGGGCATGGCAT	0.493000													30	118					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809784	215809784	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:215809784G>C	ENST00000272895.7	-	49	7503	c.7284C>G	c.(7282-7284)ctC>ctG	p.L2428L	ABCA12_ENST00000389661.4_Silent_p.L2110L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2428	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGATCTTCCAGAGGTGCCGTT	0.383000													4	24					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132627407	132627407	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:132627407G>C	ENST00000397333.3	-	3	574	c.536C>G	c.(535-537)cCa>cGa	p.P179R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	179					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CAGCCACCTTGGCAGGAAAGG	0.572000													15	68					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092152	147092152	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:147092152C>G	ENST00000234739.3	+	8	2931	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	731	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATCCAACTCTCAGATGATACC	0.537000			T	"""IGH@, IGL@"""	B-ALL								9	24					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852510	215852510	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:215852510G>A	ENST00000272895.7	-	27	4056	c.3837C>T	c.(3835-3837)taC>taT	p.Y1279Y	ABCA12_ENST00000389661.4_Silent_p.Y961Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1279					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCCATACCGTATGTCCCTG	0.413000													5	12					0	0	1	0	0
SPINK14	408187	broad.mit.edu	37	5	147553847	147553847	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:147553847C>G	ENST00000356972.1	+	3	162	c.162C>G	c.(160-162)gtC>gtG	p.V54V	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	54	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|large_intestine(1)|lung(1)	3						ATGGAACGGTCAACCCCTGCC	0.413000													16	19					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160464244	160464244	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:160464244C>A	ENST00000356956.1	+	12	1693	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	515					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGCATTTTTTCATTAATATTT	0.478000													23	62					2.89027e-11	3.24749e-11	1	1	0
HAO1	54363	broad.mit.edu	37	20	7886943	7886943	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:7886943A>G	ENST00000378789.3	-	4	630	c.579T>C	c.(577-579)ttT>ttC	p.F193F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	193	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTCAGGAGAAAATGATAAAG	0.343000													3	16					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62226518	62226518	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:62226518C>A	ENST00000261517.5	-	49	5841	c.5768G>T	c.(5767-5769)tGg>tTg	p.W1923L	VPS13C_ENST00000395896.4_Missense_Mutation_p.W1923L|VPS13C_ENST00000395898.3_Missense_Mutation_p.W1880L|VPS13C_ENST00000249837.3_Missense_Mutation_p.W1880L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1923					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAGTCTGTCCAATCTTCTTG	0.274000													13	49					2.27111e-07	2.41607e-07	1	1	0
RCC1	1104	broad.mit.edu	37	1	28858861	28858861	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:28858861G>A	ENST00000373833.6	+	7	725	c.441_splice	c.e7+1	p.R147_splice	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Splice_Site_p.R178_splice|RCC1_ENST00000398958.2_Splice_Site_p.R147_splice|RCC1_ENST00000373832.1_Splice_Site_p.R147_splice			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	147					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTTCCGGGTAAGGCTG	0.547000													12	37					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250445	1250445	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:1250445C>T	ENST00000348261.5	+	7	1241	c.993C>T	c.(991-993)ggC>ggT	p.G331G	CACNA1H_ENST00000358590.4_Silent_p.G331G|CACNA1H_ENST00000565831.1_Silent_p.G331G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	331					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGGGGGTGGGCGCTGCACGCA	0.662000													7	31					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411137	121411137	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:121411137C>G	ENST00000393667.3	-	14	7184	c.7074G>C	c.(7072-7074)aaG>aaC	p.K2358N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K2353N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2353					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATAACTGAACTTAGAATTTT	0.368000													11	34					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205073025	205073025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:205073025C>T	ENST00000264515.6	-	5	623	c.482G>A	c.(481-483)aGg>aAg	p.R161K	RBBP5_ENST00000367164.1_Missense_Mutation_p.R161K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	161					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCCCCTCGCCTATCAAAAGA	0.433000													25	93					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018456	176018456	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:176018456C>A	ENST00000510636.1	+	30	3979	c.3705C>A	c.(3703-3705)ctC>ctA	p.L1235L	CDHR2_ENST00000261944.5_Silent_p.L1235L|CDHR2_ENST00000506348.1_Silent_p.L1235L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1235					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGAGTACCTCTCTCCCTCCA	0.602000													18	62					6.94344e-10	7.71494e-10	1	1	0
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:49481247G>T	ENST00000323798.3	-	10	1438	c.1242C>A	c.(1240-1242)ccC>ccA	p.P414P	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Silent_p.P47P|GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000541188.1_Silent_p.P334P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542000													21	51					1.00905e-13	1.15982e-13	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103483409	103483409	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:103483409G>A	ENST00000358392.2	-	11	1733	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	COL11A1_ENST00000353414.4_Silent_p.G421G|COL11A1_ENST00000370096.3_Silent_p.G460G|COL11A1_ENST00000512756.1_Silent_p.G344G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	460	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCAGTGGGGCCTTGTAGAC	0.388000													31	59					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797497	127797497	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:127797497C>G	ENST00000556132.1	-	6	2538	c.1674G>C	c.(1672-1674)caG>caC	p.Q558H	SOGA3_ENST00000368268.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q558H|SOGA3_ENST00000525778.1_Missense_Mutation_p.Q558H|SOGA3_ENST00000481848.2_Missense_Mutation_p.Q558H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	558						integral to membrane											ATCTGTACTTCTGGAGCTCGT	0.493000													15	65					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26881104	26881104	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:26881104G>C	ENST00000374168.2	+	9	785	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E211Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E119Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E195Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E220Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	211	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAGCAAAGAGGCCATTGA	0.602000													26	162					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679473	75679473	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:75679473G>T	ENST00000370855.5	-	22	1992	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L627M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L497M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	627						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGAAGGCCAGAACACCTACA	0.363000													14	46					1.5842e-08	1.71574e-08	1	1	0
MIF4GD	57409	broad.mit.edu	37	17	73265430	73265430	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:73265430C>G	ENST00000577542.1	-	3	465	c.203G>C	c.(202-204)aGa>aCa	p.R68T	MIF4GD_ENST00000245551.5_Missense_Mutation_p.R61T|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R68T|MIF4GD_ENST00000578305.1_Intron			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	27	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGACAAACCTCTGTACTGCGT	0.498000													11	65					0	0	1	0	0
MRPL42	28977	broad.mit.edu	37	12	93873187	93873187	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:93873187C>A	ENST00000549982.1	+	4	319	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	MRPL42_ENST00000548545.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000552217.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000361630.2_Missense_Mutation_p.S53Y|MRPL42_ENST00000547098.1_Missense_Mutation_p.S53Y|MRPL42_ENST00000393128.4_Missense_Mutation_p.S53Y	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	53					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.S53C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GCTCTGACTTCTGATGGCAGG	0.323000													8	14					1.58986e-06	1.67354e-06	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68822821	68822821	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:68822821G>A	ENST00000294309.3	+	4	530		c.e4+1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTGTGAAGGTGAGGCGGGC	0.672000													22	24					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56762881	56762881	+	Splice_Site	SNP	A	A	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:56762881A>C	ENST00000381295.2	+	16	2301		c.e16-1		EXOC1_ENST00000346134.7_Splice_Site|EXOC1_ENST00000349598.6_Splice_Site	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1						exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCCTAACTTTAGAGTAACCAA	0.303000													9	19					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154360714	154360714	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:154360714A>G	ENST00000414028.2	+	1	85	c.35A>G	c.(34-36)aAt>aGt	p.N12S	OPRM1_ENST00000419506.2_Missense_Mutation_p.N12S|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000360422.4_Missense_Mutation_p.N12S|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Missense_Mutation_p.N12S|OPRM1_ENST00000434900.2_Missense_Mutation_p.N105S|OPRM1_ENST00000524163.1_Missense_Mutation_p.N12S|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000428397.2_Missense_Mutation_p.N12S|OPRM1_ENST00000330432.7_Missense_Mutation_p.N12S|OPRM1_ENST00000435918.2_Missense_Mutation_p.N12S|OPRM1_ENST00000229768.5_Missense_Mutation_p.N12S|OPRM1_ENST00000452687.2_Missense_Mutation_p.N12S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	12					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACGCCAGCAATTGCACTGAT	0.632000													6	26					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124454085	124454085	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:124454085A>G	ENST00000232607.2	+	2	408	c.302A>G	c.(301-303)aAg>aGg	p.K101R	UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_Missense_Mutation_p.K9R	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	101	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AAAGAAACAAAGGATTATGGT	0.338000													4	12					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17366690	17366690	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:17366690T>A	ENST00000380647.3	+	13	2046	c.1962T>A	c.(1960-1962)aaT>aaA	p.N654K	CNTLN_ENST00000425824.1_Missense_Mutation_p.N654K|CNTLN_ENST00000262360.5_Missense_Mutation_p.N654K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	654						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATTGAATAGATGTGTGG	0.269000													5	22					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73275545	73275545	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:73275545C>G	ENST00000320531.2	+	1	57	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	7						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTCCTCCAGTCAGATCCAGCC	0.617000													16	49					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048585	148048585	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:148048585G>T	ENST00000370460.2	+	14	3658	c.3179G>T	c.(3178-3180)aGa>aTa	p.R1060I	AFF2_ENST00000370457.5_Missense_Mutation_p.R1025I|AFF2_ENST00000342251.3_Missense_Mutation_p.R1027I|AFF2_ENST00000286437.5_Missense_Mutation_p.R701I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1060					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCCGGAGACCCAAGCTC	0.522000													35	228					3.62531e-18	4.21547e-18	1	1	0
MTMR14	64419	broad.mit.edu	37	3	9712819	9712819	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:9712819G>A	ENST00000296003.4	+	6	764	c.642G>A	c.(640-642)ctG>ctA	p.L214L	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.L214L|MTMR14_ENST00000351233.5_Silent_p.L214L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	214						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTGTGACCTGATGGTGGAGA	0.458000													12	32					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379208	17379208	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:17379208G>C	ENST00000242057.4	+	10	2402	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	587					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTATGTCCAAGATTCTTTAAG	0.393000													18	71					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751494	140751494	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140751494C>T	ENST00000576222.1	+	1	1664	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGGAGCGGGGTGGTGT	0.667000													13	72					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428702	48428702	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:48428702A>G	ENST00000224605.2	-	2	1449	c.1184T>C	c.(1183-1185)aTc>aCc	p.I395T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	395					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTTCGGTGAGATTATCCATTC	0.532000													11	46					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356559	2356559	+	RNA	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:2356559C>G	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TGCATTTTCTCAATAAGTTCT	0.393000													6	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8959696	8959696	+	Missense_Mutation	SNP	C	C	T	rs61748893		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:8959696C>T	ENST00000397910.4	-	84	43639	c.43436G>A	c.(43435-43437)cGc>cAc	p.R14479H	MUC16_ENST00000380951.5_Missense_Mutation_p.R1120H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22124	SEA 16.			Missing (in Ref. 3; AAK74120).	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						CTTCCGCCGGCGGGTGGTCAC	0.577000													6	10					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422660	31422660	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:31422660G>A	ENST00000389202.2	+	14	1578	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	510					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGTTCTCCGTGGTGAGCAG	0.637000													45	144					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109919583	109919583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:109919583C>T	ENST00000218054.4	-	12	1443	c.1247G>A	c.(1246-1248)tGg>tAg	p.W416*	CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.W410*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.W338*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.W418*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.W337*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.W416*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.W417*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	410					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAAGATCTTCCACTGGCCTAA	0.458000													8	45					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328856	28328856	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:28328856C>T	ENST00000341901.4	+	2	933	c.144C>T	c.(142-144)gaC>gaT	p.D48D		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	48						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCCAGCGACGTCACCAAGC	0.637000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	49					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:49416416C>T	ENST00000301067.7	-	51	16294	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R5162Q(1)									CACCTCGTTCCGAATGATGGT	0.552000													52	151					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925925	57925925	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:57925925G>C	ENST00000574161.1	+	8	1038	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	MYZAP_ENST00000380565.4_Missense_Mutation_p.E307Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E307Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E238Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.E276Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E307Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E276Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E307Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E307Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E307Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		307					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGCTGATTGAGCGCATGGA	0.502000													9	60					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544861	35544861	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:35544861G>C	ENST00000536438.1	-	11	1491	c.1176C>G	c.(1174-1176)tcC>tcG	p.S392S	FKBP5_ENST00000540787.1_Silent_p.S213S|FKBP5_ENST00000539068.1_Silent_p.S392S|FKBP5_ENST00000357266.4_Silent_p.S392S	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	392					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCTGGCACATGGAGATCTGCA	0.517000													26	68					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307998	54307998	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:54307998G>T	ENST00000545554.1	+	1	2898	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K966N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K966N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	966					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAGCCAAAGAGAATTCGTC	0.398000													5	5					3.59834e-05	3.76133e-05	1	1	0
CEP192	55125	broad.mit.edu	37	18	13055849	13055849	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:13055849T>A	ENST00000506447.1	+	19	3340	c.3260T>A	c.(3259-3261)aTg>aAg	p.M1087K	CEP192_ENST00000325971.8_Missense_Mutation_p.M491K|CEP192_ENST00000430049.2_Missense_Mutation_p.M612K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	682										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAACGGGCTATGGAAAAATTG	0.363000													13	29					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191258	68191258	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:68191258G>A	ENST00000551171.1	+	4	461	c.137G>A	c.(136-138)gGc>gAc	p.G46D	RDH12_ENST00000267502.3_Missense_Mutation_p.G46D|RDH12_ENST00000539142.1_Missense_Mutation_p.G46D	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	46					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GTGATCACTGGCGCCAACACG	0.542000													18	59					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086737	110086737	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:110086737G>C	ENST00000527748.1	+	2	1776	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	365						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGCTCCAGAGGAGGAGCT	0.567000													28	32					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:72299451G>T	ENST00000263563.6	+	15	2109	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGCCAGCACCGCAGGGCCTGT	0.662000													22	86					3.5997e-14	4.1535e-14	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55996672	55996672	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:55996672A>G	ENST00000373965.2	-	9	1290	c.896T>C	c.(895-897)aTt>aCt	p.I299T	PCDH15_ENST00000395430.1_Missense_Mutation_p.I299T|PCDH15_ENST00000437009.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395446.1_Missense_Mutation_p.I299T|PCDH15_ENST00000414778.1_Missense_Mutation_p.I304T|PCDH15_ENST00000320301.6_Missense_Mutation_p.I299T|PCDH15_ENST00000373955.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395442.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395433.1_Missense_Mutation_p.I277T|PCDH15_ENST00000395432.2_Missense_Mutation_p.I262T|PCDH15_ENST00000395438.1_Missense_Mutation_p.I299T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.I277T|PCDH15_ENST00000395445.1_Missense_Mutation_p.I299T|PCDH15_ENST00000395440.1_Missense_Mutation_p.I299T|PCDH15_ENST00000361849.3_Missense_Mutation_p.I299T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	299	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCGTAACAATAATGGGGTT	0.408000										HNSCC(58;0.16)			23	57					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156236414	156236414	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:156236414G>A	ENST00000361813.5	-	11	1317	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	391					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATGATTGACGAGGTGGGAAA	0.582000													16	48					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112023	57112023	+	Silent	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:57112023T>C	ENST00000454682.1	-	3	3572	c.3291A>G	c.(3289-3291)ccA>ccG	p.P1097P	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTGGGGGATGGGGTAGCTG	0.662000			T	BCL6	NHL								24	61					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892531	219892531	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:219892531G>T	ENST00000341552.5	-	13	2135	c.2052C>A	c.(2050-2052)atC>atA	p.I684I	CCDC108_ENST00000409865.3_Silent_p.I673I|CCDC108_ENST00000453220.1_Silent_p.I684I|CCDC108_ENST00000441968.1_Silent_p.I684I|CCDC108_ENST00000410037.1_Silent_p.I619I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	684						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCACCATGATCTTGCCCT	0.622000													7	41					0.00307968	0.00316405	1	1	0
EDC4	23644	broad.mit.edu	37	16	67914646	67914646	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:67914646G>C	ENST00000358933.5	+	18	2523	c.2284G>C	c.(2284-2286)Gag>Cag	p.E762Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	762					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCTGCACCAGAGGGCCTTGA	0.657000													45	173					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637000													17	54					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233408064	233408064	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:233408064G>T	ENST00000389494.3	+	8	906	c.885G>T	c.(883-885)gtG>gtT	p.V295V	CHRNG_ENST00000389492.3_Silent_p.V243V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	295					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCAAGAAGGTGCCTGAAACCT	0.592000													13	33					7.03913e-09	7.67905e-09	1	1	0
MGAM	8972	broad.mit.edu	37	7	141736626	141736626	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:141736626C>A	ENST00000475668.2	+	18	2134	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	MGAM_ENST00000549489.2_Missense_Mutation_p.Q694K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCCCAGGACCAGGATCCTGC	0.488000													40	115					7.53189e-24	8.86105e-24	1	1	0
PIGG	54872	broad.mit.edu	37	4	493239	493239	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:493239G>C	ENST00000453061.2	+	1	221	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q	PIGG_ENST00000504346.1_Intron|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.E39Q|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.E39Q|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	39					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCCAGAGCGGAACACGGAGC	0.652000													5	13					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792304	38792304	+	Splice_Site	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:38792304C>G	ENST00000310803.5	-	14	1897	c.1720_splice	c.e14+1	p.D574_splice	RASGRP1_ENST00000558164.1_Splice_Site_p.G539_splice|RASGRP1_ENST00000450598.2_Splice_Site_p.D539_splice|RASGRP1_ENST00000559830.1_Splice_Site_p.D539_splice|RASGRP1_ENST00000539159.1_Splice_Site_p.D526_splice|RASGRP1_ENST00000561180.1_Splice_Site_p.D625_splice	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	574					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGTCTTACCTTTACATCGA	0.428000													17	63					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967826	48967826	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:48967826A>T	ENST00000391884.1	+	2	1579	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.E368V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	368						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCTGGATGAACGGGCAGAG	0.557000													12	52					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217509	26217509	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:26217509A>T	ENST00000303910.2	+	1	345	c.307A>T	c.(307-309)Atc>Ttc	p.I103F		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	103					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGTGACCATCGCGCAGGG	0.577000													19	69					0	0	1	0	0
PFDN4	5203	broad.mit.edu	37	20	52830980	52830980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:52830980G>A	ENST00000371419.2	+	2	369	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	39					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GCTGAAGGAAGAAATAGAAGT	0.284000													4	11					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160525931	160525931	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:160525931A>T	ENST00000356956.1	+	48	7439	c.7291A>T	c.(7291-7293)Agc>Tgc	p.S2431C	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2431					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGGGCAGAGAGCTCCCACCC	0.607000													22	78					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558224	149558224	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:149558224C>G	ENST00000223210.4	+	7	2220	c.1975C>G	c.(1975-1977)Ctg>Gtg	p.L659V		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTACATCACTCTGGCCCCTCT	0.587000													4	23					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48798592	48798592	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:48798592G>C	ENST00000314191.2	-	37	4742	c.4686C>G	c.(4684-4686)ttC>ttG	p.F1562L	PRKDC_ENST00000338368.3_Missense_Mutation_p.F1562L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1563					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCGTTTCTGAGAACAAGCTAT	0.473000								Non-homologous end-joining					12	126					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692621	107692621	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107692621C>G	ENST00000388781.3	-	26	3920	c.3837G>C	c.(3835-3837)aaG>aaC	p.K1279N	LAMB4_ENST00000388780.3_Missense_Mutation_p.K1279N|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1279N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1279	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCTTCATTCTTTGCTCTTT	0.358000													15	55					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:123594531T>A	ENST00000340011.5	+	3	1264	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGTTTTTGCATATACCCGCAT	0.403000													8	26					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400146	139400146	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr9:139400146C>T	ENST00000277541.6	-	25	4277	c.4202G>A	c.(4201-4203)gGg>gAg	p.G1401E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1401	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCACAGGTCCCCTGGTTGTA	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	9					0	0	1	0	0
SNHG24	101929369	broad.mit.edu	37	14	101441178	101441178	+	RNA	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:101441178T>A	ENST00000554693.2	+	0	462				SNORD114-17_ENST00000364699.1_RNA																							ATTGGAGTTATGGACGATGAA	0.373000													14	33					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33049326	33049326	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:33049326C>T	ENST00000311388.3	+	3	908	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	DEPDC7_ENST00000241051.3_Missense_Mutation_p.H187Y	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	187					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						caactcccctcatgtaaatat	0.363000													5	12					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52840499	52840499	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:52840499C>T	ENST00000371568.3	-	16	2592	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	ORC1_ENST00000371566.1_Missense_Mutation_p.E792K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	792	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACGTGGCTTCCTCCAGTCCT	0.433000													3	23					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17598725	17598725	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:17598725G>A	ENST00000226299.4	+	9	1319	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.V318I|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	349					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GCCGGGGGATGTTGTTAGAGC	0.502000													7	65					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382442	153382442	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:153382442C>G	ENST00000351797.4	-	10	1157	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	FAM114A2_ENST00000520667.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000522858.1_Missense_Mutation_p.E361Q|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E291Q	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	361							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCAGTATTTTCTGCTTCCGAC	0.383000													22	92					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672165	186672165	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:186672165G>T	ENST00000343098.5	+	17	18399	c.18399G>T	c.(18397-18399)ctG>ctT	p.L6133L	FSIP2_ENST00000424728.1_Silent_p.L6044L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCACAGAACTGAATTTCCTTC	0.338000													11	52					1.5842e-08	1.71574e-08	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209569	140209569	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140209569C>A	ENST00000529310.1	+	1	2007	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGATCAGCACCACTC	0.672000													18	103					1.56452e-12	1.78463e-12	1	1	0
PAGR1	79447	broad.mit.edu	37	16	29827930	29827930	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:29827930C>G	ENST00000320330.6	+	1	646	c.84C>G	c.(82-84)ctC>ctG	p.L28L	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CCTCCGGCCTCCAGGCTCTGG	0.687000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132399963	132399963	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:132399963C>G	ENST00000321867.4	+	18	1957	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	536					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GTCCCCTCGTCCAGGTGGGTG	0.632000													12	22					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736230	49736230	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:49736230G>C	ENST00000327697.6	+	9	757	c.613G>C	c.(613-615)Gat>Cat	p.D205H	RNF123_ENST00000432042.1_Missense_Mutation_p.D59H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	205	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTGACCTGGATGATGGCAC	0.622000													6	33					0	0	1	0	0
MRPS31P5	100887750	broad.mit.edu	37	13	52768470	52768470	+	RNA	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:52768470G>T	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							AGGGTGGCAGGAAAGGGTGCT	0.567000													2	0					0.0784	0.0794595	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216398	20216398	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:20216398T>C	ENST00000331723.1	+	1	812	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATAAGATATTCTCCTTG	0.433000													14	49					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126754881	126754881	+	Missense_Mutation	SNP	A	A	G	rs79671291		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:126754881A>G	ENST00000274473.6	+	12	1642	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	MEGF10_ENST00000418761.2_Missense_Mutation_p.K459E|MEGF10_ENST00000503335.2_Missense_Mutation_p.K459E|MEGF10_ENST00000508365.1_Missense_Mutation_p.K459E	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	459	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGTGGCTGTAAAAATGATGC	0.463000													23	77					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48603047	48603047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:48603047C>T	ENST00000342988.3	+	11	1886	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q354*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q450*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	450	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGCAGCAGCAGGCGGCTAC	0.468000													13	25					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:57241994G>T	ENST00000537866.1	+	3	1248	c.375G>T	c.(373-375)atG>atT	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294000													11	66					4.36969e-10	4.87326e-10	1	1	0
TARBP1	6894	broad.mit.edu	37	1	234556462	234556462	+	Missense_Mutation	SNP	G	G	C	rs147943473	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:234556462G>C	ENST00000040877.1	-	21	3540	c.3541C>G	c.(3541-3543)Cct>Gct	p.P1181A		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1181					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCAAGTCTAGGGAAAAGTACC	0.358000													4	44					0	0	1	0	0
TCTE3	6991	broad.mit.edu	37	6	170143280	170143280	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:170143280C>T	ENST00000366774.3	-	3	482	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	128					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TCTGCCAATTCAAGTGACAAG	0.294000													7	40					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1												p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672000													36	95					0	0	1	0	0
ID2	3398	broad.mit.edu	37	2	8822472	8822472	+	Silent	SNP	G	G	A	rs149826728	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:8822472G>A	ENST00000234091.4	+	3	1037	c.177G>A	c.(175-177)gtG>gtA	p.V59V	ID2_ENST00000396290.1_Silent_p.V59V|ID2_ENST00000331129.3_Silent_p.V59V			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	59	Helix-loop-helix motif.				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAAGAAGGTGAGCAAGATGG	0.547000													21	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	40					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41213250	41213250	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:41213250G>A	ENST00000372652.1	+	3	418	c.150G>A	c.(148-150)aaG>aaA	p.K50K	NFYC_ENST00000308733.5_Silent_p.K50K|NFYC_ENST00000440226.3_Silent_p.K50K|NFYC_ENST00000425457.2_Silent_p.K50K|NFYC_ENST00000447388.3_Silent_p.K50K|NFYC_ENST00000427410.2_Silent_p.K50K|NFYC_ENST00000372651.1_Silent_p.K50K|NFYC_ENST00000372653.1_Silent_p.K50K|NFYC_ENST00000372654.1_Silent_p.K50K|NFYC_ENST00000456393.2_Silent_p.K50K			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	50					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTATTAAGAAGATTATGAAAC	0.378000													5	19					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28234814	28234814	+	Splice_Site	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr15:28234814T>A	ENST00000354638.3	-	11	1272		c.e11-2		OCA2_ENST00000382996.2_Splice_Site|OCA2_ENST00000353809.5_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTCTCTGCAATCAAAG	0.572000									Oculocutaneous Albinism				7	30					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527623	97527623	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97527623G>A	ENST00000305476.5	-	13	1584	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	484	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCCGGCAAAGAGCAGCTTCT	0.682000													4	17					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	64001429	64001429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:64001429C>A	ENST00000321685.3	+	6	1056	c.591C>A	c.(589-591)taC>taA	p.Y197*	RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Nonsense_Mutation_p.Y198*|DNAJC4_ENST00000355040.4_3'UTR|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	197					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CAGCCTTCTACAACGAAGCCC	0.542000													8	112					0.000442599	0.000459446	1	1	0
ANK2	287	broad.mit.edu	37	4	114274830	114274830	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:114274830G>A	ENST00000357077.4	+	38	5109	c.5056G>A	c.(5056-5058)Gag>Aag	p.E1686K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1653K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1653					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCCAGATGAGACACAGAG	0.443000													6	45					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209167	67209167	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:67209167T>G	ENST00000545016.1	-	4	576	c.491A>C	c.(490-492)cAc>cCc	p.H164P	CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGGGGTCCGTGGGGGGGGGG	0.657000													4	13					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772192	99772192	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:99772192G>A	ENST00000370185.3	+	7	2415	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	LPPR4_ENST00000370184.1_Missense_Mutation_p.E482K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E582K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		640							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)		CCCGTCCACTGAAGGTGAAGG	0.537000													12	32					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605222	116605222	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr10:116605222C>T	ENST00000369248.4	+	8	1445	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	FAM160B1_ENST00000369250.3_Silent_p.L370L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	370										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGATCAGCTCATTAAGGAAG	0.308000													6	15					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:114682285C>T	ENST00000393296.1	-	2	541	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_ENST00000369547.1_Missense_Mutation_p.R70H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622000													21	26					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161455314	161455314	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:161455314C>T	ENST00000392142.4	+	2	324	c.176C>T	c.(175-177)tCa>tTa	p.S59L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.S59L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S59L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S59L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	59					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTGGGAGATTCAGCTTGCAAG	0.398000													12	38					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900541	900541	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:900541G>A	ENST00000338591.3	+	12	2006	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	633	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CATCCTCCCCGACGCTGTCCG	0.667000													19	39					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895204	36895204	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:36895204C>T	ENST00000310758.4	-	22	2783	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P	ELMO1_ENST00000448602.1_Silent_p.P712P|ELMO1_ENST00000442504.1_Silent_p.P712P|ELMO1_ENST00000396040.2_Silent_p.P232P|ELMO1_ENST00000341056.3_Silent_p.P414P|ELMO1_ENST00000396045.3_Silent_p.P232P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	712					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGGGAATCGGCGGAGGTG	0.567000													14	73					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108920071	108920071	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:108920071G>A	ENST00000228284.3	-	16	2409	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	SART3_ENST00000431469.2_Silent_p.L689L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	725	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGGCCTCGAAGAGTGGCCTGA	0.567000									Porokeratosis				15	72					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78267146	78267146	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:78267146C>G	ENST00000370791.3	+	3	358	c.326C>G	c.(325-327)cCa>cGa	p.P109R	FAM73A_ENST00000443751.2_Missense_Mutation_p.P71R	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	109						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCATGGGAACCAGAGCACCTC	0.358000													9	24					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129770191	129770191	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:129770191C>T	ENST00000226319.6	+	5	633	c.353C>T	c.(352-354)tCa>tTa	p.S118L	PHF17_ENST00000452328.2_Missense_Mutation_p.S106L|PHF17_ENST00000511647.1_Missense_Mutation_p.S118L|PHF17_ENST00000413543.2_Missense_Mutation_p.S118L|PHF17_ENST00000512960.1_Missense_Mutation_p.S118L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		118					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACATCGTGTCATCAGGCTCT	0.517000													23	56					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46136150	46136150	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:46136150C>G	ENST00000536630.1	-	9	1058	c.920G>C	c.(919-921)aGa>aCa	p.R307T	EML2_ENST00000587152.1_Missense_Mutation_p.R361T|EML2_ENST00000245925.3_Missense_Mutation_p.R160T|EML2_ENST00000589876.1_Missense_Mutation_p.R160T	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	160					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCACACGGCTCTGTCAAACAC	0.617000													6	22					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111160475	111160475	+	Silent	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:111160475G>T	ENST00000360467.5	+	47	5094	c.4788G>T	c.(4786-4788)ccG>ccT	p.P1596P	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1596	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGAGGCCCCGGCCATCGCCA	0.607000													5	49					5.9392e-07	6.2738e-07	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82058607	82058607	+	Missense_Mutation	SNP	T	T	A	rs143281279		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:82058607T>A	ENST00000395578.1	-	13	1690	c.1574A>T	c.(1573-1575)tAt>tTt	p.Y525F	PRKG2_ENST00000545647.1_Missense_Mutation_p.Y105F|PRKG2_ENST00000264399.1_Missense_Mutation_p.Y525F|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.Y496F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	525	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CATGTATACATACTTATTGTC	0.363000													18	55					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75675857	75675857	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:75675857C>G	ENST00000395743.3	-	4	714	c.354G>C	c.(352-354)caG>caC	p.Q118H		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	118					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCACCAGAATCTGTCCTCTGT	0.378000													30	75					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132063882	132063882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr3:132063882G>C	ENST00000336375.5	+	7	850	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ACPP_ENST00000351273.7_Missense_Mutation_p.E254Q|ACPP_ENST00000475741.1_Missense_Mutation_p.E221Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	254						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAAGCAGAAAGAGAAATCTAG	0.438000													13	23					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794056	14794056	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:14794056C>T	ENST00000261170.3	-	18	2164	c.2028G>A	c.(2026-2028)cgG>cgA	p.R676R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	676	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGTTTCTTTCCGCAGGATGA	0.522000													12	22					0	0	1	0	0
HMGN3	9324	broad.mit.edu	37	6	79912025	79912025	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:79912025G>A	ENST00000344726.5	-	5	357	c.229C>T	c.(229-231)Cca>Tca	p.P77S	HMGN3_ENST00000275036.7_Intron	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	77					chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTTCAGATGGTGCAGTACCT	0.418000													19	99					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3448490	3448490	+	Silent	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr17:3448490G>C	ENST00000301365.4	-	3	326	c.195C>G	c.(193-195)tcC>tcG	p.S65S	TRPV3_ENST00000572519.1_Silent_p.S65S|TRPV3_ENST00000576742.1_Silent_p.S65S			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	65						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCATGGGCTTGGAGAAGACAG	0.592000													6	37					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978661	50978661	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:50978661A>G	ENST00000600100.1	-	3	824	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P	FAM71E1_ENST00000595790.1_Missense_Mutation_p.S138P			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	154										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCTGGACTGGAGGCTGCCACC	0.642000													3	16					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060365	130060365	+	Silent	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr11:130060365C>A	ENST00000278742.5	+	7	1069	c.651C>A	c.(649-651)ggC>ggA	p.G217G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	217	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGGCCTGCACGCCC	0.711000													10	94					0.00621372	0.00636217	1	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993392	96993392	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:96993392C>G	ENST00000361124.4	+	1	1458	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	ITPRIPL1_ENST00000439118.2_Silent_p.L341L|ITPRIPL1_ENST00000536814.1_Silent_p.L333L|ITPRIPL1_ENST00000542887.1_Silent_p.L333L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	341						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTTAAACTCAGTCTCCCAC	0.572000													14	68					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71082580	71082580	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:71082580T>A	ENST00000452400.2	-	6	579	c.398A>T	c.(397-399)gAa>gTa	p.E133V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	133	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACGTTGCCTTCCAGGTTCAC	0.393000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	4					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32161047	32161047	+	Splice_Site	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr22:32161047G>A	ENST00000400246.1	+	5	421		c.e5+1		DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000400248.1_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000382112.3_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site			O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACCCTAAGGTATGTCTTTG	0.388000													7	30					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158472660	158472660	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:158472660C>T	ENST00000409339.3	-	11	1251	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	NCAPG2_ENST00000409423.1_Missense_Mutation_p.E380K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E380K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E172K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E380K			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	380					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACATAGAGCTCTTCAAACTGT	0.433000													10	80					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527348	97527348	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:97527348G>A	ENST00000305476.5	-	14	1772	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	547	PSI.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGATGCCTGAAGTGTCCGA	0.557000													32	102					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132645203	132645203	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:132645203T>A	ENST00000367963.3	-	7	1098	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y259F|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	327					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCCATTGTGTAAAATAACCT	0.398000													14	45					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628032	19628032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:19628032C>T	ENST00000438132.3	+	14	1441	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Q376*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Q226*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Q125*|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	376						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTCCAGAACCAGCTGGTGGT	0.512000													10	35					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634736	80634736	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:80634736G>A	ENST00000369816.4	-	3	602	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	101					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CGCATTATATGATCCCATGAA	0.279000													6	25					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35107450	35107450	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr21:35107450C>G	ENST00000381318.3	+	5	575	c.287C>G	c.(286-288)tCt>tGt	p.S96C	ITSN1_ENST00000399338.4_Missense_Mutation_p.S96C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S96C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S96C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S96C|ITSN1_ENST00000399352.1_Missense_Mutation_p.S96C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S96C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S96C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S96C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S96C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S96C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	96	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCTACCCTCTGCACTTCCC	0.398000													15	72					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167343140	167343140	+	Missense_Mutation	SNP	C	C	T	rs146590748	byFrequency	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:167343140C>T	ENST00000366855.6	-	10	1268	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	RNASET2_ENST00000476238.2_Missense_Mutation_p.R236Q|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.R236Q			O00584	RNT2_HUMAN	ribonuclease T2	236					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	p.R236L(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TCTCAGACCCCGGCTCTCGGC	0.542000													14	275					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905831	83905831	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr4:83905831G>C	ENST00000340417.3	-	2	544	c.167C>G	c.(166-168)tCt>tGt	p.S56C	LIN54_ENST00000505397.1_Missense_Mutation_p.S56C|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.S56C|LIN54_ENST00000395282.2_Missense_Mutation_p.S56C|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.S56C|LIN54_ENST00000510557.1_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	56					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S56C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CGTGGCTGTAGAGTCACCAGT	0.408000													10	52					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155538268	155538268	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:155538268A>T	ENST00000401878.3	+	14	3149	c.2951A>T	c.(2950-2952)aAg>aTg	p.K984M		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	984							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATCAGCTCCAAGGTCAGGGTG	0.522000													4	12					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61510333	61510333	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:61510333C>A	ENST00000398571.2	-	37	5021	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1649					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D1649H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCGCTATCAGCAAGGCTA	0.338000													4	24					1.024e-07	1.10108e-07	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	46					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752053	247752053	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:247752053G>A	ENST00000320065.1	+	1	392	c.392G>A	c.(391-393)cGt>cAt	p.R131H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGTCTGCCGTCCTCTCCAT	0.552000													21	131					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921699	213921699	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:213921699G>A	ENST00000457361.1	-	4	432	c.264C>T	c.(262-264)agC>agT	p.S88S	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Silent_p.S88S|IKZF2_ENST00000374319.4_Silent_p.S88S|IKZF2_ENST00000413091.3_Silent_p.S88S|IKZF2_ENST00000434687.1_Silent_p.S88S|IKZF2_ENST00000342002.2_Silent_p.S94S|IKZF2_ENST00000421754.2_Silent_p.S88S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGCCACCTCGCTGCTCTCAA	0.527000													14	62					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30792496	30792496	+	Silent	SNP	A	A	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr12:30792496A>G	ENST00000256079.4	-	21	2780	c.2442T>C	c.(2440-2442)acT>acC	p.T814T	IPO8_ENST00000544829.1_Silent_p.T609T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	814					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAAACTGTACAGTGATAGGTC	0.383000													18	47					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168475980	168475980	+	Silent	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr6:168475980C>T	ENST00000283309.6	-	2	313	c.249G>A	c.(247-249)gtG>gtA	p.V83V	FRMD1_ENST00000440994.2_Silent_p.V15V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	83	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTTGCACACTTGCTGGA	0.632000													13	89					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766863	57766863	+	Silent	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr20:57766863C>G	ENST00000371030.2	+	1	789	c.789C>G	c.(787-789)acC>acG	p.T263T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	263						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGTGAGGACCGAAGCTGCTC	0.657000													17	62					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1463913	1463913	+	Silent	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527000													24	135					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302876	162302876	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:162302876C>A	ENST00000361897.5	+	5	816	c.414C>A	c.(412-414)agC>agA	p.S138R	NOS1AP_ENST00000530878.1_Missense_Mutation_p.S133R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	138	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATGGTGCCAGCAATATCTTCA	0.433000													6	30					0.0215528	0.0219181	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96505887	96505887	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr13:96505887C>G	ENST00000376747.3	-	36	4264	c.4194G>C	c.(4192-4194)aaG>aaC	p.K1398N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1398	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCCTGAACTTCTTGAGATCCA	0.388000													6	12					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850916	22850916	+	Silent	SNP	C	C	T	rs139786086		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:22850916C>T	ENST00000404138.1	+	18	4015	c.3504C>T	c.(3502-3504)gcC>gcT	p.A1168A	ZBTB40_ENST00000375647.4_Silent_p.A1168A|ZBTB40_ENST00000374651.4_Silent_p.A1056A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1168					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAACCCAGGCCGCAGCCTCAC	0.552000													23	42					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47972622	47972622	+	Silent	SNP	G	G	A	rs138080210		TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:47972622G>A	ENST00000319275.3	+	5	399	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SSX6_ENST00000376932.2_Silent_p.P109P																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						GAATCATCCCGAAGGTGAGTA	0.423000													22	54					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049882	239049882	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:239049882G>C	ENST00000409223.1	+	2	594	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E145Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	163	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGAGAACTTTGAGGCTGTGGC	0.652000													5	22					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154831	12154831	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:12154831G>T	ENST00000602107.1	-	5	1525	c.1526C>A	c.(1525-1527)tCt>tAt	p.S509Y	ZNF878_ENST00000547628.1_Missense_Mutation_p.S462Y|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388000													5	25					0.014758	0.0150592	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144398195	144398195	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr8:144398195T>C	ENST00000523676.1	-	12	1543	c.1138A>G	c.(1138-1140)Aag>Gag	p.K380E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K380E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.K478E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	478					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCATCGACTTCTCGAACGTA	0.607000													17	143					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949319	32949319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr18:32949319G>A	ENST00000306346.1	-	4	999	c.868C>T	c.(868-870)Cga>Tga	p.R290*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R290*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	290					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATTGCGCTTCGGCTGAATGCC	0.448000													10	32					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002435	3002435	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:3002435G>C	ENST00000381127.1	+	6	779	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ARSF_ENST00000537104.1_Missense_Mutation_p.E186D|ARSF_ENST00000359361.2_Missense_Mutation_p.E186D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	186						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGCCTTTGAGAGTCAGCTCT	0.527000													12	65					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226714	27226714	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:27226714C>T	ENST00000361720.5	-	1	243	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	74						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCCCTCAGCGGCTGGG	0.642000													18	66					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64675494	64675494	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr14:64675494G>A	ENST00000357395.3	+	102	18519	c.7375G>A	c.(7375-7377)Gaa>Aaa	p.E2459K	SYNE2_ENST00000344113.4_Missense_Mutation_p.E6074K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6074K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2459K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2708K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6036K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_5'UTR			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6074					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCGAGATATTGAACAACACAG	0.517000													15	40					0	0	1	0	0
HPDL	84842	broad.mit.edu	37	1	45793750	45793750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr1:45793750delG	ENST00000334815.3	+	1	1206	c.930delG	c.(928-930)cafs	p.Q310fs		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	310					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGCTCGACAGGGGATCCTGC	0.557													23	82	---	---	---	---					
NNT	23530	broad.mit.edu	37	5	43628388	43628389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr5:43628388_43628389insT	ENST00000264663.5	+	7	1084_1085	c.863_864insT	c.(862-864)tgcfs	p.C288fs	NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs|NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	288					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CAAGGAGGATATGCAAAAGAGA	0.455													37	58	---	---	---	---					
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401													2	4	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107603497	107603498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr7:107603497_107603498insA	ENST00000393561.1	-	13	1965_1966	c.1781_1782insT	c.(1780-1782)agtfs	p.S594fs	LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs			P07942	LAMB1_HUMAN	laminin, beta 1	570	Laminin IV type B.				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)	GCCGCTCCACTATGCTAACCCC	0.450													30	75	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr14:22892202delA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA																							ctaaaaatacaaaaaaaaaaa	0.547													3	5	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30097569	30097580	+	In_Frame_Del	DEL	CATCCAGATAGC	CATCCAGATAGC	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr16:30097569_30097580delCATCCAGATAGC	ENST00000395224.2	-	9	1336_1347	c.1277_1288delGCTATCTGGATG	c.(1276-1290)gtg>g	p.GYLDV426del	TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	426					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTGGAGCCCACATCCAGATAGCCCCCAGGCGC	0.665													7	89	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													62	32	---	---	---	---					
DNM2	1785	broad.mit.edu	37	19	10930720	10930724	+	Frame_Shift_Del	DEL	TCATG	TCATG	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chr19:10930720_10930724delTCATG	ENST00000314646.5	+	16	1900_1904	c.1736_1740delTCATG	c.(1735-1740)tfs	p.FM579fs	DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs			P50570	DYN2_HUMAN	dynamin 2	579	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGAAGGGCTTCATGTCCAACAAGC	0.571			"""F, N, Splice, Mis, O"""		ETP ALL								19	110	---	---	---	---					
SPIN3	169981	broad.mit.edu	37	X	57020862	57020863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	42e1cbbc-c4cb-4c49-97d2-815d10ce5711	g.chrX:57020862_57020863insT	ENST00000374919.3	-	2	840_841	c.518_519insA	c.(517-519)tatfs	p.Y173fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	173					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTGGTACATATATAATACAGG	0.436													20	35	---	---	---	---					
HPDL	84842	broad.mit.edu	37	1	45793750	45793750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr1:45793750delG	ENST00000334815.3	+	1	1206	c.930delG	c.(928-930)cafs	p.Q310fs		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	310					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGCTCGACAGGGGATCCTGC	0.557													23	82	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													4	3	---	---	---	---					
NNT	23530	broad.mit.edu	37	5	43628388	43628389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr5:43628388_43628389insT	ENST00000264663.5	+	7	1084_1085	c.863_864insT	c.(862-864)tgcfs	p.C288fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.C288fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.C157fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	288					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CAAGGAGGATATGCAAAAGAGA	0.455													37	58	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107603497	107603498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr7:107603497_107603498insA	ENST00000393561.1	-	13	1965_1966	c.1781_1782insT	c.(1780-1782)agtfs	p.S594fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.S570fs|LAMB1_ENST00000393560.1_Frame_Shift_Ins_p.S570fs			P07942	LAMB1_HUMAN	laminin, beta 1	570	Laminin IV type B.				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)	GCCGCTCCACTATGCTAACCCC	0.450													30	75	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:29372348delT	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							TGGGAGGttgttttttttttt	0.478													5	3	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30097569	30097580	+	In_Frame_Del	DEL	CATCCAGATAGC	CATCCAGATAGC	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:30097569_30097580delCATCCAGATAGC	ENST00000395224.2	-	9	1336_1347	c.1277_1288delGCTATCTGGATG	c.(1276-1290)gtg>g	p.GYLDV426del	TBX6_ENST00000279386.2_In_Frame_Del_p.GYLDV426del	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	426					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTGGAGCCCACATCCAGATAGCCCCCAGGCGC	0.665													7	89	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													4	9	---	---	---	---					
DNM2	1785	broad.mit.edu	37	19	10930720	10930724	+	Frame_Shift_Del	DEL	TCATG	TCATG	-			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chr19:10930720_10930724delTCATG	ENST00000314646.5	+	16	1900_1904	c.1736_1740delTCATG	c.(1735-1740)tfs	p.FM579fs	DNM2_ENST00000359692.6_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000355667.6_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000585892.1_Frame_Shift_Del_p.FM579fs|DNM2_ENST00000408974.4_Frame_Shift_Del_p.FM575fs|DNM2_ENST00000389253.4_Frame_Shift_Del_p.FM579fs			P50570	DYN2_HUMAN	dynamin 2	579	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAGAAGGGCTTCATGTCCAACAAGC	0.571			"""F, N, Splice, Mis, O"""		ETP ALL								19	110	---	---	---	---					
SPIN3	169981	broad.mit.edu	37	X	57020862	57020863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8635-01A-11D-2394-08	TCGA-HD-8635-11A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	506a88bb-5855-4e54-8076-d5ace351c938	95d564f7-5f05-4ab9-9897-a5804b2fec36	g.chrX:57020862_57020863insT	ENST00000374919.3	-	2	840_841	c.518_519insA	c.(517-519)tatfs	p.Y173fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	173					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTGGTACATATATAATACAGG	0.436													20	35	---	---	---	---					
