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
STOM	2040	broad.mit.edu	37	9	124111399	124111399	+	Splice_Site	SNP	T	T	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:124111399T>A	ENST00000286713.2	-	5	541	c.525_splice	c.e5+1	p.Q175_splice	STOM_ENST00000538954.1_Splice_Site_p.Q124_splice|STOM_ENST00000347359.2_Intron	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	175					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		ACTCCCCACCTGCATGTTGTG	0.448000													3	30					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091713	159091713	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:159091713A>G	ENST00000296530.8	-	2	1436	c.815T>C	c.(814-816)tTg>tCg	p.L272S	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.L272S|FAM198B_ENST00000585682.1_Missense_Mutation_p.L272S|FAM198B_ENST00000393807.5_Missense_Mutation_p.L272S	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	272						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACTCATGTCCAAGGGCTGCTT	0.617000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	40					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45512902	45512902	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr14:45512902G>A	ENST00000361462.2	+	12	4009	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	FAM179B_ENST00000361577.3_Missense_Mutation_p.E1276K|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1276							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGAAAATTGAGGGACTGAA	0.343000													13	16					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130682857	130682857	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:130682857C>T	ENST00000510168.1	+	13	1492	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ATP2C1_ENST00000504948.1_Silent_p.V298V|ATP2C1_ENST00000505330.1_Silent_p.V298V|ATP2C1_ENST00000507488.2_Silent_p.V298V|ATP2C1_ENST00000359644.3_Silent_p.V314V|ATP2C1_ENST00000422190.2_Silent_p.V314V|ATP2C1_ENST00000428331.2_Silent_p.V314V|ATP2C1_ENST00000393221.4_Silent_p.V348V|ATP2C1_ENST00000508532.1_Silent_p.V314V|ATP2C1_ENST00000513801.1_Silent_p.V298V|ATP2C1_ENST00000328560.8_Silent_p.V314V|ATP2C1_ENST00000533801.2_Silent_p.V309V|ATP2C1_ENST00000504381.1_Silent_p.V259V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	314					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCATTGTGGTCACAGTGACGC	0.408000									Hailey-Hailey disease				33	211					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205211155	205211155	+	Missense_Mutation	SNP	G	G	A	rs148387041		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:205211155G>A	ENST00000358024.3	+	2	1119	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	TMCC2_ENST00000545499.1_Missense_Mutation_p.E166K|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	244				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGAGGAGGCCGAAGGCATCGG	0.672000													10	30					0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3102422	3102422	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:3102422G>A	ENST00000217173.2	-	3	1334	c.863C>T	c.(862-864)aCa>aTa	p.T288I	UBOX5_ENST00000348031.2_Missense_Mutation_p.T288I|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	288	U-box.					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTTCTCCAGTGTGCTCTGGTC	0.582000													16	48					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167278011	167278011	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:167278011G>A	ENST00000308378.3	-	5	797	c.492C>T	c.(490-492)atC>atT	p.I164I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.I217I|WDR49_ENST00000476376.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	164										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATCAGAGCTGATTACCTAAG	0.368000													14	75					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71411527	71411527	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:71411527A>C	ENST00000296755.7	+	2	485	c.187A>C	c.(187-189)Atc>Ctc	p.I63L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	63						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCCTAGGAATCCGATCATG	0.443000													23	36					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016246	23016246	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:23016246G>A	ENST00000255008.3	+	1	190	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	42					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ccggggacgcgcgggcggcgg	0.726000													16	75					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118977252	118977252	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:118977252C>T	ENST00000276201.2	-	5	551	c.482G>A	c.(481-483)aGa>aAa	p.R161K	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.R161K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	161	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CAAAAACTTTCTATATTCTGG	0.284000													3	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454894	179454894	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:179454894C>T	ENST00000589042.1	-	304	61782	c.61558G>A	c.(61558-61560)Gaa>Aaa	p.E20520K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11455K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18879K|TTN_ENST00000342992.6_Missense_Mutation_p.E17952K|TTN_ENST00000359218.5_Missense_Mutation_p.E11580K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11647K|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18879	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTCTTTTCTCGGACCAAT	0.438000													26	42					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620617	7620617	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:7620617C>T	ENST00000486284.1	+	8	2298	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	GRM7_ENST00000403881.1_Missense_Mutation_p.T675M|GRM7_ENST00000357716.4_Missense_Mutation_p.T675M|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.T675M|GRM7_ENST00000389336.4_Missense_Mutation_p.T675M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCCCTCTTGACGAAAACAAAT	0.458000													15	40					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85741276	85741276	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:85741276G>C	ENST00000322366.6	-	12	2062	c.1655C>G	c.(1654-1656)aCc>aGc	p.T552S	WDFY3_ENST00000295888.4_Missense_Mutation_p.T552S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	552						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CACTGTCAAGGTCTCCATAAC	0.368000													48	122					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	5					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877187	38877187	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:38877187G>T	ENST00000334928.6	-	3	847	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	239	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAGGCTCAGACCGGACTCG	0.687000													9	37					1.12685e-05	1.20418e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090795	9090795	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9090795G>A	ENST00000397910.4	-	1	1223	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	340	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCCTTTCGGCACTTGTTT	0.527000													17	31					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	14					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25887887	25887887	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:25887887C>T	ENST00000463407.1	+	5	715	c.572C>T	c.(571-573)tCa>tTa	p.S191L	NUPL1_ENST00000381736.3_Missense_Mutation_p.S191L|NUPL1_ENST00000381718.3_Missense_Mutation_p.S179L|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	191	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACAGGAACATCAGGTAATTGA	0.363000													11	28					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981275	61981275	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:61981275G>A	ENST00000370263.4	-	5	1709	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	496					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGCGGCATCGTCTCGGGGAA	0.701000													5	13					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417477	121417477	+	Silent	SNP	T	T	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:121417477T>G	ENST00000393667.3	-	13	2003	c.1893A>C	c.(1891-1893)ccA>ccC	p.P631P	GOLGB1_ENST00000340645.5_Silent_p.P626P	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	626					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTCATTTGGCATTAAGG	0.388000													10	147					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56006940	56006940	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:56006940G>A	ENST00000429591.2	+	4	572	c.534G>A	c.(532-534)ctG>ctA	p.L178L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTGTAATCTGAACTCAAACC	0.363000													15	25					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13011306	13011306	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:13011306T>A	ENST00000293695.7	-	4	481	c.463A>T	c.(463-465)Act>Tct	p.T155S	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	155					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTGTACACAGTCTCCACGCTG	0.517000													17	40					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311204	150311204	+	RNA	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:150311204G>A	ENST00000520773.1	-	0	2117																											ACTTCTCACTGAAGGCTTTTC	0.383000													3	13					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113030788	113030788	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:113030788T>C	ENST00000283550.3	+	1	156	c.89T>C	c.(88-90)aTt>aCt	p.I30T		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	30						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AGAACCGTGATTCCAGGTAGG	0.592000													4	18					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176513	111176513	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:111176513C>T	ENST00000267328.3	-	2	417	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	68					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCCGGCAGTACATGGAGCCCA	0.612000													8	66					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49731041	49731041	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:49731041C>G	ENST00000451037.2	-	5	1462	c.522G>C	c.(520-522)aaG>aaC	p.K174N	CA10_ENST00000285273.4_Missense_Mutation_p.K174N|CA10_ENST00000442502.2_Missense_Mutation_p.K174N|CA10_ENST00000570565.1_Missense_Mutation_p.K99N|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.K180N	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	174					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CATTTGGACTCTTTGCAGCTT	0.388000													8	33					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703785	33703785	+	Silent	SNP	C	C	T	rs143999176		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr13:33703785C>T	ENST00000336934.5	-	5	1145	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	STARD13_ENST00000399365.3_Silent_p.V225V|STARD13_ENST00000255486.4_Silent_p.V335V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	343					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGGCGTGCTCACCCCGCTGC	0.647000													4	46					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265244	168265244	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:168265244A>G	ENST00000366806.2	+	2	261	c.119A>G	c.(118-120)cAt>cGt	p.H40R	MLLT4_ENST00000351017.4_Missense_Mutation_p.H40R|MLLT4_ENST00000392112.1_Missense_Mutation_p.H40R|MLLT4_ENST00000344191.4_Missense_Mutation_p.H40R|MLLT4_ENST00000400822.3_Missense_Mutation_p.H40R|MLLT4_ENST00000392108.3_Missense_Mutation_p.H40R|MLLT4_ENST00000447894.2_Missense_Mutation_p.H40R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	40	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGGAGTTCCATGGAGTGATG	0.338000			T	MLL	AL								57	122					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780952	137780952	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:137780952C>T	ENST00000378339.2	+	6	645	c.453C>T	c.(451-453)ttC>ttT	p.F151F	REEP2_ENST00000506158.1_Silent_p.F111F|REEP2_ENST00000254901.5_Silent_p.F149F	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	149						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCGCAGCTTCAGCATGCAGG	0.692000													23	46					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64783033	64783033	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:64783033G>C	ENST00000413366.3	+	15	1680	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	552	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTCTATCATGGAGCACAACGT	0.413000													12	42					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887350	155887350	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:155887350C>T	ENST00000368320.3	-	11	1405	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	KIAA0907_ENST00000368321.3_Silent_p.Q460Q			Q7Z7F0	K0907_HUMAN	KIAA0907	460										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATCGTCTCTTCTGTGCCTGGG	0.537000													14	147					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029326	150029326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:150029326G>T	ENST00000394243.1	+	3	2595	c.2221G>T	c.(2221-2223)Gag>Tag	p.E741*	SYNPO_ENST00000307662.4_Nonsense_Mutation_p.E497*|SYNPO_ENST00000522122.1_Nonsense_Mutation_p.E741*|SYNPO_ENST00000519664.1_Nonsense_Mutation_p.E497*	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	741					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATGTCATCGAGTCTTCAAG	0.622000													28	50					1.39806e-14	1.57101e-14	1	1	0
FLNC	2318	broad.mit.edu	37	7	128482910	128482910	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr7:128482910G>A	ENST00000325888.8	+	16	2713	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	FLNC_ENST00000346177.6_Missense_Mutation_p.D818N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	818					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCTGACATTGACTTCGACAT	0.602000													12	34					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63073360	63073360	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:63073360G>A	ENST00000561311.1	+	43	5766	c.5536G>A	c.(5536-5538)Gaa>Aaa	p.E1846K	TLN2_ENST00000306829.6_Missense_Mutation_p.E1846K|TLN2_ENST00000472902.1_Missense_Mutation_p.E239K			Q9Y4G6	TLN2_HUMAN	talin 2	1846					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACTCCTCCAGAACCAAAGGG	0.458000													9	26					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64633635	64633635	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:64633635G>A	ENST00000498707.1	-	11	2033	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.T536M	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	564	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCGCACTCCGTCCCATCGGC	0.517000													29	76					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626317	4626317	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:4626317C>G	ENST00000300747.5	-	2	707	c.418G>C	c.(418-420)Gag>Cag	p.E140Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCTTGTACTCCCAGGCAACA	0.547000													16	24					0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62592578	62592578	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:62592578C>A	ENST00000294179.3	-	8	762	c.609G>T	c.(607-609)caG>caT	p.Q203H	STX5_ENST00000541317.1_Missense_Mutation_p.Q107H|STX5_ENST00000394690.1_Missense_Mutation_p.Q149H|STX5_ENST00000377897.4_Missense_Mutation_p.Q203H	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	203					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCTCCTCTGCTGCTTCAGGT	0.582000													12	46					6.40141e-05	6.77431e-05	1	1	0
HFM1	164045	broad.mit.edu	37	1	91790285	91790285	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:91790285C>G	ENST00000370425.3	-	21	2472	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	HFM1_ENST00000370424.3_Missense_Mutation_p.E471Q|HFM1_ENST00000294696.5_Missense_Mutation_p.E24Q|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	792	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCACTGTCTCAAATGTAATA	0.313000													3	13					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851603	14851603	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr18:14851603G>A	ENST00000358984.4	+	36	3483	c.3303G>A	c.(3301-3303)ctG>ctA	p.L1101L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1186										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGCCACACTGAAACATCAAC	0.338000													10	16					0	0	1	0	0
C2CD4A	145741	broad.mit.edu	37	15	62360020	62360020	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr15:62360020G>A	ENST00000355522.5	+	2	349	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	70						nucleus											TTCTTGGGTCGAAGAAGCAGG	0.692000													5	17					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149243913	149243913	+	Splice_Site	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:149243913C>T	ENST00000465804.1	-	7	1162		c.e7-1		WWTR1_ENST00000467467.1_Splice_Site|WWTR1_ENST00000360632.3_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATATGGCCCTCTGCAAAGCAA	0.458000			T	CAMTA1	epitheliod hemangioendothelioma								23	76					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20031214	20031214	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:20031214C>T	ENST00000377340.2	-	3	618	c.587G>A	c.(586-588)aGa>aAa	p.R196K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R184K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R35K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	196					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTAGCCTCTCTTAAGAGTTG	0.373000													10	38					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779675	76779675	+	Missense_Mutation	SNP	G	G	C	rs115264699	by1000genomes	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:76779675G>C	ENST00000328299.3	+	2	352	c.204G>C	c.(202-204)aaG>aaC	p.K68N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	68					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TAAATGTGAAGACACAAGAGG	0.458000													9	27					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11900211	11900211	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:11900211C>T	ENST00000346436.6	+	23	2593	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	CLCN6_ENST00000376487.3_Silent_p.I825I|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	847	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGGGATCATCACACGGC	0.582000													21	24					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165650	151165650	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:151165650C>T	ENST00000282466.3	-	4	2118	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	707					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCCAACCTCAGCCTCCATC	0.483000													18	78					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308947	248308947	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:248308947C>G	ENST00000366476.1	+	1	498	c.498C>G	c.(496-498)ttC>ttG	p.F166L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATTTTCCTTCTCCTACTGTG	0.443000													10	164					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9010648	9010648	+	Splice_Site	SNP	T	T	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:9010648T>C	ENST00000397910.4	-	38	39216	c.39013_splice	c.e38+1	p.T13005_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13007					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTACTTACTTGTGGGGCTG	0.463000													3	26					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242163156	242163156	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:242163156G>A	ENST00000274979.8	+	23	2757	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	885						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAGTGAAGCGGGAGTACTAC	0.592000													11	22					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40476788	40476788	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:40476788G>T	ENST00000264657.5	-	17	1853	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	STAT3_ENST00000389272.3_Missense_Mutation_p.S416Y|STAT3_ENST00000585517.1_Missense_Mutation_p.S514Y|STAT3_ENST00000588969.1_Missense_Mutation_p.S514Y|STAT3_ENST00000404395.3_Missense_Mutation_p.S514Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	514					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTGGTGGTGGAGGAGAACTG	0.542000									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	38					9.31168e-06	1.00492e-05	1	1	0
HCG17	414778	broad.mit.edu	37	6	30231273	30231273	+	RNA	SNP	A	A	G	rs3130401	byFrequency	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:30231273A>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							TGTATTTTCTATCTTTTCCCC	0.418000													3	30					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999057	129999057	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr11:129999057G>T	ENST00000263574.5	+	10	1483	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S	APLP2_ENST00000539648.1_Missense_Mutation_p.A259S|APLP2_ENST00000543137.1_Missense_Mutation_p.A378S|APLP2_ENST00000338167.5_Missense_Mutation_p.A471S|APLP2_ENST00000345598.5_Missense_Mutation_p.A242S|APLP2_ENST00000278756.7_Missense_Mutation_p.A481S|APLP2_ENST00000528499.1_Missense_Mutation_p.A415S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	471					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGTCGGATGGCTCTGGAGAA	0.592000													28	36					6.32553e-13	6.96447e-13	1	1	0
OPN5	221391	broad.mit.edu	37	6	47754305	47754305	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:47754305A>G	ENST00000489301.2	+	2	270	c.185A>G	c.(184-186)aAg>aGg	p.K62R	OPN5_ENST00000393699.2_Missense_Mutation_p.K62R|OPN5_ENST00000371211.2_Missense_Mutation_p.K62R			Q6U736	OPN5_HUMAN	opsin 5	62					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTAGACGAAAGAAGAAGCTG	0.373000													3	28					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041559	107041559	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:107041559C>T	ENST00000409886.3	-	20	2951	c.2864G>A	c.(2863-2865)cGg>cAg	p.R955Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.R955Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	955					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCCTTCTTCCGGCCACTAAT	0.403000													10	222					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107562201	107562201	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr9:107562201G>A	ENST00000374736.3	-	36	5236	c.4842C>T	c.(4840-4842)ctC>ctT	p.L1614L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1614					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTTGGCCCGGAGAATGGCAT	0.473000													24	68					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46070195	46070195	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr2:46070195G>A	ENST00000306156.3	+	2	732	c.405G>A	c.(403-405)tcG>tcA	p.S135S	PRKCE_ENST00000467135.1_3'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	135					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGGTCGTCGGGTGAAGGTA	0.483000													46	106					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348398	30348398	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348398C>T	ENST00000327564.7	+	1	375	c.314C>T	c.(313-315)tCt>tTt	p.S105F	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S78F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S78F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S90F			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	78						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGGGGCCCTCTGCTTCTTCG	0.602000													12	107					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140044531	140044531	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140044531G>A	ENST00000358337.5	+	1	271	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	12					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTGAGGATGGGAGCGA	0.667000													3	18					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545767	48545767	+	Silent	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:48545767A>C	ENST00000508540.1	-	1	560	c.408T>G	c.(406-408)acT>acG	p.T136T	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.T136T|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	136					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGCAGCTCAGTGACCTTGT	0.607000													23	85					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42070976	42070976	+	Silent	SNP	G	G	T	rs11558910		TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr22:42070976G>T	ENST00000401959.1	-	4	664	c.348C>A	c.(346-348)atC>atA	p.I116I	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Silent_p.I116I|NHP2L1_ENST00000402458.1_Silent_p.I120I|NHP2L1_ENST00000355257.3_Silent_p.I116I	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	116					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GAATGGATTGGATCTGCTGTT	0.557000													5	61					0.184627	0.188078	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30348998	30348998	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:30348998C>G	ENST00000327564.7	+	1	975	c.914C>G	c.(913-915)tCt>tGt	p.S305C	LRRC37B_ENST00000543378.2_Missense_Mutation_p.S196C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S278C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.S278C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S290C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	278						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATCCAGTCCTCTTCACTCCAG	0.552000													9	123					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117045776	117045776	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:117045776G>C	ENST00000355044.3	+	15	2410	c.2284G>C	c.(2284-2286)Gtc>Ctc	p.V762L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	762	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTCTTAGAGTCAATTCCAG	0.328000													7	21					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr8:139190891C>A	ENST00000395297.1	-	10	1086	c.916G>T	c.(916-918)Gat>Tat	p.D306Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512000										HNSCC(54;0.14)			23	38					3.5997e-14	4.00375e-14	1	1	0
SERPINF1	5176	broad.mit.edu	37	17	1673237	1673237	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:1673237C>G	ENST00000254722.4	+	3	339	c.176C>G	c.(175-177)tCc>tGc	p.S59C	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	59					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGCTGTCTCCAACTTCGGC	0.647000													42	84					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416492	48416492	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:48416492G>A	ENST00000249598.1	-	1	361	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.R68C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTAAGGCTGCGCAGGAAATCC	0.577000													17	52					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797904	100797904	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:100797904A>C	ENST00000323346.5	+	9	1455	c.1142A>C	c.(1141-1143)cAa>cCa	p.Q381P	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q331P	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	381					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGAAGCAGACAAATTTTAACC	0.413000													14	21					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143094792	143094792	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr4:143094792G>A	ENST00000513000.1	-	17	1785	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	INPP4B_ENST00000508116.1_Missense_Mutation_p.S451L|INPP4B_ENST00000509777.1_Missense_Mutation_p.S451L|INPP4B_ENST00000308502.4_Missense_Mutation_p.S451L|INPP4B_ENST00000262992.4_Missense_Mutation_p.S451L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	451					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACTTTTTCTGAAAGCATCTT	0.388000													15	42					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337073	104337073	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:104337073G>T	ENST00000299767.5	+	13	2048	c.1866G>T	c.(1864-1866)atG>atT	p.M622I		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	622					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGAATTGGATGAAAGATAAAG	0.363000													4	29					0.014758	0.0151757	1	1	0
PROS1	5627	broad.mit.edu	37	3	93595847	93595847	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:93595847C>T	ENST00000394236.3	-	14	2149	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	PROS1_ENST00000407433.1_Missense_Mutation_p.M480I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	611	Laminin G-like 2.		M -> K (in PROS1D).|M -> T (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTTTGCTTTCATTGCTTTGT	0.378000													19	102					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31896534	31896534	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr16:31896534G>A	ENST00000300870.10	+	3	392	c.183G>A	c.(181-183)gaG>gaA	p.E61E	ZNF267_ENST00000394846.3_Silent_p.E61E	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	61	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGGAAAGAGCCTTGGAATG	0.448000													5	18					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21465539	21465539	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:21465539C>A	ENST00000281523.2	-	7	1388	c.870G>T	c.(868-870)agG>agT	p.R290S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	290						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCTTTGTGCCTTCTACTGC	0.398000													13	43					9.05144e-12	9.86607e-12	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42187954	42187954	+	Silent	SNP	A	A	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:42187954A>G	ENST00000006724.3	-	3	669	c.468T>C	c.(466-468)aaT>aaC	p.N156N	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.N156N|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	156	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTCCACCGGATTGAAGTTGT	0.522000													34	70					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202157	140202157	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr5:140202157C>G	ENST00000529859.1	+	1	797	c.797C>G	c.(796-798)tCa>tGa	p.S266*	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.S266*|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.S266*	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACGCCTCAGATGCAGAT	0.333000													13	42					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	51					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141327388	141327388	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:141327388G>A	ENST00000286364.3	+	21	2109	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E693K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	692	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TAACTGTGTAGAAGCTAATGA	0.403000													13	109					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237972270	237972270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:237972270C>T	ENST00000366574.2	+	100	14685	c.14368C>T	c.(14368-14370)Cga>Tga	p.R4790*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4788R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTTTCCGAAAATTCTA	0.353000													25	80					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160500709	160500709	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr6:160500709C>T	ENST00000356956.1	+	38	5724	c.5576C>T	c.(5575-5577)tCa>tTa	p.S1859L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1859					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGTCTGCTCTCAGGCACCAAG	0.557000													11	39					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393947	10393947	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr20:10393947G>A	ENST00000347364.2	-	3	978	c.216C>T	c.(214-216)ccC>ccT	p.P72P		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	72					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTTTAAAATGGGATGTGTGA	0.463000													12	68					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399728	10399728	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:10399728C>G	ENST00000226207.5	-	34	4889	c.4795G>C	c.(4795-4797)Gag>Cag	p.E1599Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCATGGACTCCACGATTCTA	0.443000													28	101					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122849361	122849361	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:122849361C>T	ENST00000316218.7	+	11	903	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	270	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CCCTGAGACTCCCTGGGCAGA	0.592000													13	133					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2120904	2120904	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:2120904C>G	ENST00000355272.6	-	14	1644	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	AP3D1_ENST00000350812.6_Missense_Mutation_p.E311Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E389Q|AP3D1_ENST00000345016.5_Missense_Mutation_p.E480Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	480					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TACAGCACCTCACAGATCCCG	0.647000													4	51					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904445	129904445	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr10:129904445C>T	ENST00000368654.3	-	13	6034	c.5659G>A	c.(5659-5661)Gag>Aag	p.E1887K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1527K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1887	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTCTTCCTCTACGTCTGCT	0.458000													70	193					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545847	112545847	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:112545847C>G	ENST00000488794.1	-	6	1198	c.609G>C	c.(607-609)ttG>ttC	p.L203F	CD200R1L_ENST00000448932.1_Missense_Mutation_p.L203F|CD200R1L_ENST00000398214.1_Missense_Mutation_p.L224F			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	224	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TACCTGAATTCAACTTTACGG	0.433000													14	149					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44365307	44365307	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr1:44365307G>A	ENST00000262915.3	+	10	1036	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E287K|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E256K|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E187K|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E272K|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E187K|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E218K|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E256K|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E202K|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E233K|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E218K|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E202K|ST3GAL3_ENST00000531816.1_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	218					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAGCGGCCTGAGCAGTACGA	0.542000													16	62					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418744	1418744	+	Silent	SNP	C	C	T			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr3:1418744C>T	ENST00000446702.2	+	17	2778	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	CNTN6_ENST00000350110.2_Silent_p.L717L|CNTN6_ENST00000539053.1_Silent_p.L645L			Q9UQ52	CNTN6_HUMAN	contactin 6	717	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTCTGAACTCGTCATTACGT	0.378000													22	53					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672125	55672125	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr19:55672125G>C	ENST00000527223.2	-	9	1136	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	DNAAF3_ENST00000524407.2_Missense_Mutation_p.Q311E|DNAAF3_ENST00000455045.1_Missense_Mutation_p.Q257E|DNAAF3_ENST00000391720.4_Missense_Mutation_p.Q358E|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	311																	ACGTTGTGTTGAGTGATCTCC	0.711000													6	56					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150817168	150817168	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chrX:150817168C>G	ENST00000370357.4	+	9	956	c.711C>G	c.(709-711)atC>atG	p.I237M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	237						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ctgctgctATCTCAGACGTAT	0.418000													28	13					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12283759	12283759	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:12283759G>C	ENST00000261349.4	-	19	4115	c.4039C>G	c.(4039-4041)Cat>Gat	p.H1347D	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.H1302D|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1347	LDL-receptor class A 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCACATTATGATCACACTTC	0.333000													6	15					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752801	7752801	+	Silent	SNP	G	G	A			TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr17:7752801G>A	ENST00000254846.5	+	11	3584	c.3195G>A	c.(3193-3195)ccG>ccA	p.P1065P	KDM6B_ENST00000448097.2_Silent_p.P1065P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1065	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1065P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCACACCCCCGTCAGCCTCTG	0.677000													6	24					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG	rs144787206	byFrequency	TCGA-HD-8314-01A-11D-2394-08	TCGA-HD-8314-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0cc18a-d122-41d4-be95-66359ce93264	8f14bd18-aaaa-42bd-b0a4-2ff83e447171	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8329-8334)caaaca>caCAGaaca	p.2777_2777Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	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			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)		agcagcagcagcaacagcagca	0.589													10	54	---	---	---	---