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
XPNPEP1	7511	broad.mit.edu	37	10	111667572	111667572	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr10:111667572G>A	ENST00000369680.4	-	0	242				XPNPEP1_ENST00000322238.8_Splice_Site_p.D41_splice|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_De_novo_Start_OutOfFrame|XPNPEP1_ENST00000502935.1_Splice_Site_p.D41_splice	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GCATTCTGCCGTCTGCAACAA	0.527000													10	168					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5251931	5251931	+	Silent	SNP	C	C	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr3:5251931C>A	ENST00000256497.4	+	9	1714	c.1581C>A	c.(1579-1581)gtC>gtA	p.V527V	EDEM1_ENST00000445686.1_Silent_p.V332V	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	527					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.V527V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACACAAAAGTCAAGTCAGTTT	0.358000													6	76					0.0293803	0.0293803	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22915379	22915379	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:22915379C>T	ENST00000166244.3	+	5	1067	c.995C>T	c.(994-996)cCa>cTa	p.P332L	EPHA8_ENST00000538803.1_Missense_Mutation_p.P332L|EPHA8_ENST00000374644.4_Missense_Mutation_p.P332L	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	332	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTCGGCACCAGTGAACCTG	0.587000													5	92					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498478	125498478	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr8:125498478G>A	ENST00000303545.3	+	2	960	c.588G>A	c.(586-588)gtG>gtA	p.V196V		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	196					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGGCAGTGAAACTGAAGT	0.368000													5	151					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878576	24878576	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr14:24878576C>G	ENST00000382554.3	+	4	1894	c.1576C>G	c.(1576-1578)Caa>Gaa	p.Q526E		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	526					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGCTCAAGGGGGGCT	0.567000													5	57					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386121	7386121	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:7386121C>T	ENST00000412468.2	+	2	933	c.818C>T	c.(817-819)gCg>gTg	p.A273V	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	273	DUF6 2.					integral to membrane											GTGAGCTATGCGGTCACCAAG	0.597000													4	139					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35507588	35507588	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr20:35507588G>A	ENST00000217320.3	+	3	378	c.334G>A	c.(334-336)Gac>Aac	p.D112N	TLDC2_ENST00000602922.1_Missense_Mutation_p.D112N	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		CAGGGACCAGGACGGGCAGGT	0.682000													5	37					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656173	47656173	+	Silent	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:47656173C>T	ENST00000328741.5	+	2	632	c.270C>T	c.(268-270)ccC>ccT	p.P90P	NXPH3_ENST00000513748.1_Silent_p.P90P	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	90	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACCACAGCCCCCCACCCTCAG	0.632000													4	65					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418833	51418833	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr3:51418833A>C	ENST00000266037.9	+	53	5959	c.5936A>C	c.(5935-5937)cAc>cCc	p.H1979P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1979						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.H1979P(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGCCCTACCACCCCCGCCTG	0.692000													10	14					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459959	1459959	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr2:1459959G>A	ENST00000345913.4	+	7	815	c.724G>A	c.(724-726)Gcg>Acg	p.A242T	TPO_ENST00000329066.4_Missense_Mutation_p.A242T|TPO_ENST00000382201.3_Missense_Mutation_p.A242T|TPO_ENST00000346956.3_Missense_Mutation_p.A242T|TPO_ENST00000337415.3_Missense_Mutation_p.A242T|TPO_ENST00000382198.1_Missense_Mutation_p.A242T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A242T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	242					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCACGACATCGCGTTCACACC	0.498000													4	62					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834632	82834632	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:82834632A>G	ENST00000265077.3	+	8	6375	c.5810A>G	c.(5809-5811)gAc>gGc	p.D1937G	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D950G|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1937	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCAGTGGTGACTTTAGAGAA	0.433000													8	119					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139561	96139561	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:96139561G>C	ENST00000373040.3	+	1	655	c.252G>C	c.(250-252)gaG>gaC	p.E84D	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	84					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GAGGGGCAGAGAAGGCTTCAA	0.473000								Other identified genes with known or suspected DNA repair function					3	37					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573713	154573713	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:154573713C>T	ENST00000368474.4	-	2	1604	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	ADAR_ENST00000292205.5_Missense_Mutation_p.A512T|ADAR_ENST00000368471.3_Missense_Mutation_p.A174T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	469					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCACCTGGTGCTGCGCGGATA	0.502000													6	66					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33665942	33665942	+	Silent	SNP	T	T	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr20:33665942T>C	ENST00000252015.2	-	2	293	c.204A>G	c.(202-204)caA>caG	p.Q68Q	TRPC4AP_ENST00000432634.2_Silent_p.Q68Q|TRPC4AP_ENST00000451813.1_Silent_p.Q68Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	68	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCCACTTGGATTGTTTGTCCC	0.428000													7	56					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78915520	78915520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:78915520C>T	ENST00000453514.1	+	2	742	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	PAPD4_ENST00000296783.3_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.Q17*	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	17					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCAAATCATCAACAACATAA	0.393000													4	55					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													4	29					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179997121	179997121	+	Silent	SNP	T	T	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr2:179997121T>C	ENST00000428443.3	-	10	1198	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	294					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTTAGTTGTTCTGATCCAG	0.443000													16	190					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376203	15376203	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:15376203G>A	ENST00000297904.3	-	3	843	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	138					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					ATCGGAACACGTTCACACAAG	0.507000													8	253					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155771602	155771602	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:155771602A>G	ENST00000435422.3	+	2	591	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	SGCD_ENST00000447401.1_Missense_Mutation_p.Y36C|SGCD_ENST00000337851.4_Missense_Mutation_p.Y36C|SGCD_ENST00000517913.1_Missense_Mutation_p.Y36C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	35					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGATGCCTGTATTTCTTTGTC	0.483000													4	103					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196341	102196341	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr3:102196341C>T	ENST00000306176.1	+	11	1275	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	ZPLD1_ENST00000491959.1_Missense_Mutation_p.S376L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S376L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	376						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCACTGATATCAGGAATGGTC	0.473000													7	265					0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	964263	964263	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr19:964263G>A	ENST00000263620.3	+	5	1109	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	261	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCTGTGAACCGCATCCCCATC	0.637000													3	54					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135738526	135738526	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:135738526C>A	ENST00000370629.2	+	4	414	c.358C>A	c.(358-360)Cct>Act	p.P120T	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	120					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGATCAGAATCCTCAAATTGC	0.453000									Immune Deficiency with Hyper-IgM				8	103					1.06961e-07	1.14188e-07	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140745114	140745114	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:140745114C>G	ENST00000518069.1	+	1	1217	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTATTAACAACTAGGGAC	0.423000													6	135					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29219774	29219774	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:29219774T>G	ENST00000321990.4	+	20	4786	c.4408T>G	c.(4408-4410)Tcc>Gcc	p.S1470A		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1470					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAACATTTTTTCCCCATCTGA	0.328000													9	111					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	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													4	19					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452659	130452659	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr3:130452659T>C	ENST00000356763.3	-	4	1740	c.1183A>G	c.(1183-1185)Aaa>Gaa	p.K395E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	395					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCAGCTAGTTTGGAATCACAG	0.398000													17	158					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	110					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649197	130649197	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:130649197A>C	ENST00000229030.4	+	1	2194	c.1710A>C	c.(1708-1710)aaA>aaC	p.K570N	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	570					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCACGGGAAATATGAGATCC	0.562000													6	39					0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49952768	49952768	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr19:49952768T>C	ENST00000262265.5	-	3	536	c.301A>G	c.(301-303)Atg>Gtg	p.M101V	PIH1D1_ENST00000596049.1_Missense_Mutation_p.M101V	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	101					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCAGACTCATGGGGATGCGA	0.602000													4	93					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117178	47117178	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:47117178C>G	ENST00000562435.1	-	9	1916	c.1532G>C	c.(1531-1533)aGg>aCg	p.R511T	NETO2_ENST00000303155.5_Missense_Mutation_p.R504T	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	511						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCTCGCCCCCTGACATAAAT	0.463000										HNSCC(25;0.065)			4	109					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41102663	41102663	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:41102663C>G	ENST00000421990.2	-	17	2053	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	AARSD1_ENST00000427569.2_Missense_Mutation_p.E396Q|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E570Q|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E509Q|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E479Q	NM_001136042.2	NP_001129514.2																					GCCTGCGCCTCCATCCGCCGG	0.572000													3	67					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899742	202899742	+	Silent	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr2:202899742C>T	ENST00000286201.1	+	1	433	c.372C>T	c.(370-372)tgC>tgT	p.C124C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	124	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTTCTCTGTGCGAGCGCGCCC	0.652000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	121					0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99976639	99976639	+	Silent	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr14:99976639G>C	ENST00000389879.5	+	11	1386	c.1263G>C	c.(1261-1263)ccG>ccC	p.P421P	CCNK_ENST00000555049.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	421					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCGGCCCCCGCCCCCACCCC	0.682000													3	9					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965212	6965212	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:6965212G>C	ENST00000229268.8	+	4	388	c.336G>C	c.(334-336)gaG>gaC	p.E112D	USP5_ENST00000389231.5_Missense_Mutation_p.E112D	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	112					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TTAGCGAGGAGAAGTTTGAAT	0.507000													5	180					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310957	124310957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr11:124310957C>T	ENST00000328064.2	-	1	97	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V9M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AACTGTGTCACGAAGGAGGAA	0.507000													6	61					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227929	53227929	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:53227929G>A	ENST00000330553.5	-	1	150	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	39	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGCTCCGAGACACCGTCAC	0.627000													4	84					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25325815	25325815	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr8:25325815G>A	ENST00000330560.3	+	6	1098	c.621G>A	c.(619-621)caG>caA	p.Q207Q	CDCA2_ENST00000380665.3_Silent_p.Q192Q	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	207					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATCCTATCAGAGAGACTCTG	0.433000													4	66					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80290448	80290448	+	Silent	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr7:80290448C>G	ENST00000435819.1	+	8	1035	c.351C>G	c.(349-351)ccC>ccG	p.P117P	CD36_ENST00000432207.1_Silent_p.P117P|CD36_ENST00000433696.2_Silent_p.P117P|CD36_ENST00000538969.1_Silent_p.P117P|CD36_ENST00000394788.3_Silent_p.P117P|CD36_ENST00000534394.1_Silent_p.P41P|CD36_ENST00000309881.7_Silent_p.P117P|CD36_ENST00000447544.2_Silent_p.P117P|CD36_ENST00000544133.1_Silent_p.P117P			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	117	Required for interaction with thrombospondins, THBS1 and THBS2.				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TCCTGCAGCCCAATGGTGCCA	0.433000													7	85					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125934	6125934	+	Nonsense_Mutation	SNP	G	G	C	rs74509284		TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:6125934G>C	ENST00000261405.5	-	29	5410	c.5156C>G	c.(5155-5157)tCa>tGa	p.S1719*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1719	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATTGGCTTTTGAAATGAAAGC	0.478000													5	119					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176329	223176329	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:223176329G>T	ENST00000284476.6	+	8	1754	c.1590G>T	c.(1588-1590)atG>atT	p.M530I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	530	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCACTCTGATGACAATGTTTG	0.358000													4	88					0.00024832	0.000251504	1	1	0
GPX3	2878	broad.mit.edu	37	5	150400274	150400274	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:150400274C>T	ENST00000388825.4	+	1	151	c.59C>T	c.(58-60)tCg>tTg	p.S20L	GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Missense_Mutation_p.S20L	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	20					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	GGCTTCGTCTCGCAGAGCCGG	0.687000													4	39					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197062348	197062348	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:197062348T>A	ENST00000367409.4	-	21	9384	c.9128A>T	c.(9127-9129)tAt>tTt	p.Y3043F	ASPM_ENST00000367408.1_Missense_Mutation_p.Y708F|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1458F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3043	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTTCCTTTATATCCTCTATA	0.368000													6	105					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164139	72164139	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:72164139A>C	ENST00000537465.1	-	12	1928	c.1770T>G	c.(1768-1770)aaT>aaG	p.N590K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.N585K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.N440K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	590										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CAAGCATGTCATTCATTTTCA	0.463000													6	121					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79974310	79974310	+	Silent	SNP	A	A	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr9:79974310A>G	ENST00000360280.3	+	58	8357	c.8097A>G	c.(8095-8097)tcA>tcG	p.S2699S	VPS13A_ENST00000376634.4_Silent_p.S2699S|VPS13A_ENST00000376636.3_Silent_p.S2660S|VPS13A_ENST00000357409.5_Silent_p.S2699S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2699					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCAGATATCACGTATTAAGT	0.299000													4	31					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18923881	18923881	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:18923881C>A	ENST00000379942.4	-	26	3568	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	968					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTTACCACTTCTTTCAACGCC	0.463000													18	191					1.56452e-12	1.69312e-12	1	1	0
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	A	rs3211483		TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428000									Familial Paragangliomas				4	118					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121766252	121766252	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:121766252C>A	ENST00000261819.3	-	10	1292	c.1171G>T	c.(1171-1173)Gct>Tct	p.A391S	ANAPC5_ENST00000344395.4_Missense_Mutation_p.A279S|ANAPC5_ENST00000536366.1_Missense_Mutation_p.L212F|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A57S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A279S|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A378S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	391					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(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCTTCCCAGCAAAAGCTCTC	0.502000													5	39					3.59834e-05	3.6918e-05	1	1	0
ZNF652	22834	broad.mit.edu	37	17	47390081	47390081	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:47390081G>A	ENST00000362063.2	-	3	1345	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	ZNF652_ENST00000430262.2_Missense_Mutation_p.H343Y	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTCCGCACATGAGCCATGGTA	0.393000													5	49					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51757967	51757967	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:51757967G>A	ENST00000543196.2	-	5	1192	c.987C>T	c.(985-987)ttC>ttT	p.F329F	GALNT6_ENST00000356317.3_Silent_p.F329F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	329					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTCCCAGCCGAAGGTCAGGC	0.572000													6	110					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79989634	79989634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:79989634C>A	ENST00000373275.4	-	11	1285	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	357										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACTCTAATTCAGCAATTTTC	0.338000													10	115					3.07112e-06	3.19235e-06	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33527406	33527406	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:33527406A>G	ENST00000504830.1	-	24	5007	c.4672T>C	c.(4672-4674)Tgt>Cgt	p.C1558R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1473R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1558	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCACAGAACATTTCTTCATG	0.473000										HNSCC(64;0.19)			14	136					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866087	139866087	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:139866087C>T	ENST00000370532.2	-	1	636	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	149	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTACGTCTTCCAAAAAAGCCA	0.438000													7	330					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953235	25953235	+	Silent	SNP	T	T	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr15:25953235T>C	ENST00000356865.6	-	12	2574	c.2463A>G	c.(2461-2463)gaA>gaG	p.E821E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	821					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCATACTCTTCTTTACTCA	0.587000													5	60					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19644449	19644449	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:19644449C>G	ENST00000438132.3	+	19	1905	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	C16orf62_ENST00000417362.2_Missense_Mutation_p.I463M|C16orf62_ENST00000251143.5_Missense_Mutation_p.I530M|C16orf62_ENST00000543152.1_Missense_Mutation_p.I279M|C16orf62_ENST00000542263.1_Missense_Mutation_p.I552M|C16orf62_ENST00000448695.1_Missense_Mutation_p.I380M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	530						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						CAGATGTCATCAAGCACATGA	0.413000													4	167					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31099809	31099809	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:31099809G>C	ENST00000318217.5	-	5	920	c.616C>G	c.(616-618)Cag>Gag	p.Q206E	MYO1D_ENST00000579584.1_Missense_Mutation_p.Q206E|MYO1D_ENST00000583621.1_Missense_Mutation_p.Q206E|MYO1D_ENST00000394649.4_Missense_Mutation_p.Q118E	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	206	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTACTAACCTGATAGAAAGAA	0.388000													5	122					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192122	125192122	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr2:125192122G>C	ENST00000431078.1	+	5	955	c.591G>C	c.(589-591)ttG>ttC	p.L197F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	197	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATCAGAAGTTGATGAGTACTC	0.468000													5	99					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060501	35060501	+	Silent	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr20:35060501C>T	ENST00000373913.3	+	3	861	c.381C>T	c.(379-381)ggC>ggT	p.G127G	DLGAP4_ENST00000339266.5_Silent_p.G127G|DLGAP4_ENST00000401952.2_Silent_p.G127G|DLGAP4_ENST00000373907.2_Silent_p.G127G			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	127					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTCCCCGTGGCGAGGCCAAGG	0.637000													7	113					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383624	12383624	+	Silent	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr19:12383624C>T	ENST00000356109.5	-	5	1708	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	ZNF44_ENST00000355684.5_Silent_p.G482G	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TAAATGCTTTCCCACACTCCT	0.348000													5	83					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607000													5	77					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027929	37027929	+	Silent	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chrX:37027929C>T	ENST00000358047.3	+	1	1498	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	482				D -> N (in Ref. 2; BAC86381).						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAGAGAAGGACGTATCTCATC	0.627000													11	128					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623563	34623563	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr9:34623563G>A	ENST00000378909.2	-	4	816	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GCGCCCCGAGGGGGCGGCCCT	0.746000													4	64					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579059	45579059	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr19:45579059G>A	ENST00000303809.2	-	2	574	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	120					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCAACGGGAAGGTCTGCAGGC	0.657000													4	146					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563372	56563372	+	Missense_Mutation	SNP	C	C	T	rs144543721	byFrequency	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:56563372C>T	ENST00000394023.3	-	25	2761	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E886K|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E855K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E886K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	855					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.E855K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGTTGCCCTCGCCAATGtcc	0.597000													6	41					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24424415	24424415	+	Missense_Mutation	SNP	C	C	T	rs139828169	by1000genomes	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:24424415C>T	ENST00000330966.7	-	7	908	c.746G>A	c.(745-747)cGc>cAc	p.R249H	MYOM3_ENST00000329601.7_Missense_Mutation_p.R248H|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.R248H			Q5VTT5	MYOM3_HUMAN	myomesin 3	248										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGACTTACTGCGGACGAGGAC	0.587000													5	294					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741086	140741086	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr5:140741086G>T	ENST00000522605.1	+	1	1384	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCACGTGGCAGAGAACAA	0.552000													14	140					4.3838e-07	4.6176e-07	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344554	20344554	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr14:20344554G>T	ENST00000298642.2	+	1	164	c.128G>T	c.(127-129)aGc>aTc	p.S43I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGGTAACAGCCTCATAGTC	0.398000													31	463					3.99451e-17	4.38286e-17	1	1	0
PYCR1	5831	broad.mit.edu	37	17	79892830	79892830	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr17:79892830G>A	ENST00000337943.5	-	4	954	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PYCR1_ENST00000402252.2_Missense_Mutation_p.T198M|PYCR1_ENST00000403172.4_Missense_Mutation_p.T171M|PYCR1_ENST00000329875.8_Missense_Mutation_p.T171M|PYCR1_ENST00000577756.1_Missense_Mutation_p.T171M	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	171					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ACTGAGCCCCGTGACGGCATC	0.697000													6	48					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													4	163					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244640842	244640842	+	Splice_Site	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:244640842G>C	ENST00000366534.4	+	3	168		c.e3-1		C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTTTTTAGATTAAGTTAG	0.313000													4	141					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89318080	89318080	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr4:89318080C>T	ENST00000380265.5	+	7	1148	c.965C>T	c.(964-966)cCa>cTa	p.P322L	HERC6_ENST00000264346.7_Missense_Mutation_p.P322L|HERC6_ENST00000273960.3_Intron	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	322					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ACAAGCAAGCCAACTCATCCG	0.458000													6	104					0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8577377	8577377	+	Splice_Site	SNP	C	C	G			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr19:8577377C>G	ENST00000393927.4	-	4	538		c.e4-1		ZNF414_ENST00000255616.8_Splice_Site	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						AAGAGCTTGCCTGGTAGGGAT	0.602000													3	59					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328790	28328790	+	Silent	SNP	T	T	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:28328790T>A	ENST00000341901.4	+	2	867	c.78T>A	c.(76-78)ggT>ggA	p.G26G		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	26						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CTGGGCCTGGTGCCGGTGTGC	0.677000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	89					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739380	62739380	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr1:62739380G>C	ENST00000371153.4	-	3	1774	c.1396C>G	c.(1396-1398)Cag>Gag	p.Q466E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	466										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGGCTCTGATTCCCTTGT	0.562000													7	246					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9729531	9729531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr3:9729531delG	ENST00000296003.4	+	14	1313	c.1191delG	c.(1189-1191)ttfs	p.L397fs	MTMR14_ENST00000351233.5_Frame_Shift_Del_p.L397fs|MTMR14_ENST00000420925.1_Frame_Shift_Del_p.L151fs|MTMR14_ENST00000353332.5_Frame_Shift_Del_p.L397fs	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	397						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)					TCAATTTTTTGAAGCATATTA	0.542													2	4	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	194	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													4	7	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													10	66	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-86-8671-01A-11D-2393-08	TCGA-86-8671-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fc9416-3d83-41d3-96cf-46379f35cd93	56749b82-9845-4be6-9a67-33cd016f0f18	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													4	7	---	---	---	---