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
AGAP11	119385	broad.mit.edu	37	10	88769021	88769021	+	RNA	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr10:88769021C>T	ENST00000444431.1	+	0	3621				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCAAAACATGCGTGGGAACTC	0.552000													13	152					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811703	1811703	+	Silent	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1811703G>A	ENST00000539485.1	-	2	266	c.33C>T	c.(31-33)agC>agT	p.S11S	ATP8B3_ENST00000526092.1_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000310127.6_Silent_p.S11S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	11					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CAGCTCTGGTGCTCCTGGGAG	0.657000													3	15					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372357	74372357	+	RNA	SNP	C	C	T	rs116311018	by1000genomes	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr16:74372357C>T	ENST00000429810.2	-	0	1839																											ATCTCAAACTCTGTGAAAGAG	0.368000													3	29					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36591424	36591424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:36591424G>A	ENST00000405511.1	-	5	564	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	APOL4_ENST00000429038.2_Missense_Mutation_p.H48Y|APOL4_ENST00000352371.1_Missense_Mutation_p.H51Y|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_Missense_Mutation_p.H51Y|APOL4_ENST00000332987.1_Missense_Mutation_p.H48Y	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	51					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						ATTTTCAGATGCACTGGGCTA	0.453000											OREG0026515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	55					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540689	55540689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr8:55540689C>G	ENST00000220676.1	+	4	4395	c.4247C>G	c.(4246-4248)tCt>tGt	p.S1416C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1416					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACATAGTTCTCTAGATGAT	0.363000													3	27					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30531237	30531237	+	Silent	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr16:30531237C>T	ENST00000356798.6	+	30	3468	c.3288C>T	c.(3286-3288)agC>agT	p.S1096S	ITGAL_ENST00000358164.5_Silent_p.S1012S|ITGAL_ENST00000433423.2_Silent_p.S330S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1096					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)	ACGTGCTGAGCGGCATCGGGG	0.592000													8	126					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933867	49933867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:49933867G>A	ENST00000221485.3	-	12	1763	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.P519L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P464L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	531	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.P531L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGTGCCCCCGGGGGCTCAGC	0.662000													7	27					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67787343	67787343	+	Silent	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr1:67787343C>T	ENST00000262345.1	+	3	775	c.135C>T	c.(133-135)tcC>tcT	p.S45S	IL12RB2_ENST00000544434.1_Silent_p.S45S|IL12RB2_ENST00000371000.1_Silent_p.S45S|IL12RB2_ENST00000541374.1_Silent_p.S45S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	45					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TACTTGGATCCACTGTCAATA	0.388000													11	63					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229428	140229428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:140229428G>A	ENST00000378122.3	+	1	2072	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D450N|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGTGAACGACAACGCACC	0.662000													6	85					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080060	1080060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:1080060G>A	ENST00000313093.2	+	13	1877	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	HMHA1_ENST00000543365.1_Missense_Mutation_p.R432Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.R565Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.R184Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.R576Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.R389Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.R553Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	549					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CAGCTGCAGCGGGACCAGGAG	0.677000													4	49					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29750746	29750746	+	Nonsense_Mutation	SNP	G	G	T	rs138572174		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr22:29750746G>T	ENST00000357586.2	-	7	1017	c.831C>A	c.(829-831)taC>taA	p.Y277*	AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Y277*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Y277*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	277					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCAGTGTGCCGTAGTAGTCCA	0.572000													4	49					1	1	1	1	0
NCS1	23413	broad.mit.edu	37	9	132980238	132980238	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr9:132980238G>C	ENST00000372398.3	+	3	303	c.217G>C	c.(217-219)Gat>Cat	p.D73H	NCS1_ENST00000458469.1_Missense_Mutation_p.D55H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	73	EF-hand 2.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CAACGTCTTTGATGAAAACAA	0.567000													5	52					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77212909	77212909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:77212909G>A	ENST00000248594.6	+	4	595	c.323G>A	c.(322-324)gGa>gAa	p.G108E	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	108	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAACTCAAGGACCTTTAGCA	0.299000													3	21					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600586	31600586	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr6:31600586A>T	ENST00000376033.2	+	16	4370	c.4136A>T	c.(4135-4137)gAt>gTt	p.D1379V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D1379V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1379	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGCCAAGGATTTGAGTAAA	0.622000													8	87					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720363	101720363	+	Silent	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr13:101720363G>A	ENST00000251127.6	-	39	4434	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1451						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAAAACAAGGAGAAATTCT	0.323000													4	18					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													4	34					0.014758	0.0158512	1	1	0
SIX1	6495	broad.mit.edu	37	14	61115498	61115498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr14:61115498C>T	ENST00000247182.6	-	1	682	c.410G>A	c.(409-411)gGt>gAt	p.G137D	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	137					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCGCAGGACACCCCTCGACTT	0.652000													4	52					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689050	42689050	+	Silent	SNP	A	A	G	rs140501920		TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr5:42689050A>G	ENST00000230882.4	+	4	385	c.195A>G	c.(193-195)tcA>tcG	p.S65S	GHR_ENST00000357703.3_Silent_p.S43S|GHR_ENST00000537449.1_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	65					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTTTTTCATGCCACTGGA	0.448000													5	72					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47173617	47173617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr1:47173617C>G	ENST00000371933.3	-	3	1417	c.441G>C	c.(439-441)ttG>ttC	p.L147F	EFCAB14_ENST00000544071.1_Missense_Mutation_p.L147F	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		AGACTTTGTTCAAACCCATCT	0.338000													3	31					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50912134	50912134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr19:50912134G>A	ENST00000440232.2	+	15	1921	c.1868G>A	c.(1867-1869)cGg>cAg	p.R623Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R623Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R649Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	623					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCTCCTTCGGCCCGGGACT	0.627000								DNA polymerases (catalytic subunits)					6	65					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99955866	99955866	+	Missense_Mutation	SNP	G	G	A	rs61735533	by1000genomes	TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr7:99955866G>A	ENST00000448382.1	+	6	1424	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000310771.4_5'UTR|PILRB_ENST00000452089.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCACAGGGCCCCTCTCCT	0.687000													4	58					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42301421	42301422	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45T-01A-11D-A24D-08	TCGA-CV-A45T-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b09a3a7a-cd0a-444e-b8f3-c99c43e5a998	9b899cf9-fd99-410a-9f1b-aa2a80135740	g.chr13:42301421_42301422insT	ENST00000379310.3	-	24	2734_2735	c.2666_2667insA	c.(2665-2667)agtfs	p.S889fs	VWA8_ENST00000281496.6_Frame_Shift_Ins_p.S889fs	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TCACTACAACATTTTCTCTTCC	0.297													2	4	---	---	---	---