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
LRRC8A	56262	broad.mit.edu	37	9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:131670897C>T	ENST00000259324.5	+	3	1977	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	485					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGATTGAAGCGCCCGCGCTG	0.612000													11	19					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164512	85164512	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:85164512C>T	ENST00000448803.2	+	3	1378	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	ZSCAN2_ENST00000546148.1_Silent_p.Y362Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	362					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCCCTACGAATGTAAAG	0.493000													42	96					0	0	1	0	0
RP11-1055B8.7	0	broad.mit.edu	37	17	79409603	79409603	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr17:79409603G>A	ENST00000307745.7	+	9	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T																								CCCCTTCCAGGCCGCCGAGGC	0.701000													3	7					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577519	9577519	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:9577519G>A	ENST00000301480.4	-	10	2317	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378000													33	103					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431823	179431823	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:179431823G>T	ENST00000589042.1	-	326	79260	c.79036C>A	c.(79036-79038)Ctg>Atg	p.L26346M	TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L24705M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24705	Ig-like 127.						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)			GTAACTTTCAGAGAATTGGTC	0.413000													38	93					8.73648e-17	9.31891e-17	1	1	0
TIE1	7075	broad.mit.edu	37	1	43778122	43778122	+	Missense_Mutation	SNP	C	C	T	rs144699870		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43778122C>T	ENST00000372476.3	+	12	1856	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	593	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCAGGAGCGGCGGGAGAA	0.692000													4	22					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR_ENST00000454757.2_Missense_Mutation_p.V721M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACCCCCACGTGTGCCGCCT	0.632000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			93	892					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													5	22					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221744	55221744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55221744C>T	ENST00000275493.2	+	7	965	c.788C>T	c.(787-789)aCc>aTc	p.T263I	EGFR_ENST00000454757.2_Missense_Mutation_p.T210I|EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000455089.1_Missense_Mutation_p.T218I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAGGACACCTGCCCCCCA	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			245	370					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254436	98254436	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:98254436C>T	ENST00000265634.3	+	3	1011	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	282	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGCTGATCGAGTGGGGCA	0.642000													10	63					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662324	28662324	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:28662324C>T	ENST00000280904.6	-	9	1586	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC2_ENST00000251081.6_Silent_p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318000													26	73					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383000													12	41					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	33					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2444189	2444189	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2444189G>A	ENST00000452833.1	-	1	86	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TRPM5_ENST00000533060.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G|TRPM5_ENST00000155858.6_Silent_p.G26G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	26						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTGACCTCGCCCCTGTGCA	0.657000													19	20					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784298	32784298	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:32784298C>T	ENST00000342743.5	+	2	482	c.117C>T	c.(115-117)aaC>aaT	p.N39N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	39						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTTTGGGAAACATCCCCCTCC	0.592000													3	40					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419205	105419205	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:105419205C>T	ENST00000333244.5	-	7	2702	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	861						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.607000													82	221					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235639	170235639	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:170235639C>T	ENST00000518525.1	+	9	1179	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	GABRP_ENST00000519385.1_Missense_Mutation_p.R239W|GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519598.1_Missense_Mutation_p.R239W			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	239						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTTGAGCTTCGGAGGAATGT	0.423000													17	31					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35837090	35837090	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:35837090G>A	ENST00000544992.2	+	12	2286	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000085219.5_Silent_p.P788P|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P			P20273	CD22_HUMAN	CD22 molecule	0					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACCTCCCCCGGACTGCGATG	0.587000													7	19					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382304	33382304	+	Silent	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:33382304T>G	ENST00000374516.3	+	10	1198	c.927T>G	c.(925-927)ctT>ctG	p.L309L	PHF1_ENST00000374512.3_Silent_p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	309					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTCTGCTCTTAACAGCCACA	0.547000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	73					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	Silent	SNP	A	A	G	rs11669959	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:53122295A>G	ENST00000600714.1	-	4	318	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	111						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433000													5	173					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216301	20216301	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:20216301T>C	ENST00000331723.1	+	1	715	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGTCTTCTCTACCTGTGC	0.468000													24	51					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060770	111060770	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:111060770C>T	ENST00000369771.2	-	1	1027	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCACGGGCAGCGCTGGAACTT	0.557000													18	30					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47351210	47351210	+	RNA	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:47351210C>T	ENST00000505841.1	-	0	412					NR_002788.2																						CACAATCTGGCGGTGCTTTTT	0.448000													11	9					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676044	62676044	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:62676044A>T	ENST00000498273.1	+	4	1893	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	533										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAAAACCCAGGAGGAAGAG	0.463000													10	43					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2799775	2799775	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:2799775C>T	ENST00000307741.6	+	5	778	c.575C>T	c.(574-576)aCg>aTg	p.T192M	THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	192					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTGCCCTTCACGCTCCAGGAG	0.612000													14	58					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184003274	184003274	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:184003274A>G	ENST00000402825.3	+	10	1511	c.1511A>G	c.(1510-1512)aAc>aGc	p.N504S	ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	504	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCATCCTGAACAATTACCTG	0.522000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	51					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949239	89949239	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:89949239T>C	ENST00000405460.2	+	20	3944	c.3848T>C	c.(3847-3849)cTg>cCg	p.L1283P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1283					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGTACAACTGGGCTGGGAA	0.448000													12	35					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377720	151377720	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:151377720A>G	ENST00000271715.2	-	19	4105	c.3791T>C	c.(3790-3792)tTa>tCa	p.L1264S	POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S|POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S|POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1264	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATACATCTAATGGCTGAAT	0.468000													53	122					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12281413	12281413	+	Silent	SNP	C	C	T	rs144667365		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:12281413C>T	ENST00000256194.4	+	26	3591	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	MICAL2_ENST00000527546.1_Silent_p.A911A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000379612.3_Silent_p.A875A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592000													3	13					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:43415637C>T	ENST00000244533.3	+	16	4196	c.3837C>T	c.(3835-3837)gaC>gaT	p.D1279D	ABCC10_ENST00000372530.4_Silent_p.D1307D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632000													7	34					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64970400	64970400	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:64970400G>A	ENST00000326648.3	+	5	3616	c.3488G>A	c.(3487-3489)cGg>cAg	p.R1163Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGGAGGAGCGGGACCGCAAA	0.527000													12	30					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629445	48629445	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:48629445C>T	ENST00000328333.8	-	10	1350	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	415	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAACAGAAGCGTCTGCCCAG	0.647000													26	71					0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527000													15	28					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:105001535G>A	ENST00000507740.1	+	14	2542	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383000										HNSCC(12;0.0054)			15	42					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669406	23669406	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:23669406C>T	ENST00000217423.3	-	1	271	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	67						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACCTGCAGCGGGCGTCTGT	0.597000													8	37					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886955	2886955	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:2886955C>T	ENST00000602557.1	-	52	8299	c.7744G>A	c.(7744-7746)Ggt>Agt	p.G2582S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2582S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2582	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGAGCACCGTACTCATTC	0.537000													4	16					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15287957	15287957	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:15287957C>T	ENST00000546332.1	-	2	523	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ASB9_ENST00000380483.3_Missense_Mutation_p.A14T|ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.A14T	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	14					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTGGCCCCGCGGGCTTGCTC	0.562000													4	25					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859990	46859990	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:46859990A>G	ENST00000262738.3	-	2	3796	c.3797T>C	c.(3796-3798)cTg>cCg	p.L1266P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1266					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCCAGGCAGCAGCGCCGA	0.632000													16	48					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064762	60064762	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:60064762C>T	ENST00000355131.3	+	4	460	c.237C>T	c.(235-237)tcC>tcT	p.S79S	MS4A4A_ENST00000337908.4_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S|MS4A4A_ENST00000532114.1_Silent_p.S98S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	98						integral to membrane	receptor activity	p.S79S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACCCTATTTCCGTGTATATCG	0.378000													10	46					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24304756	24304756	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:24304756C>T	ENST00000175238.6	+	3	297	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	72					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACCTTAGTCCTTCATCTTCT	0.328000													20	76					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082601	114082601	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:114082601G>A	ENST00000276198.1	+	5	1113	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I|HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	129					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTGTGCCCCGTCTGGATTTC	0.408000													35	92					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661796	139661796	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:139661796G>A	ENST00000263552.6	+	13	1439	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V300I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	300					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTTTGACATCGTCAGAGACGT	0.542000													8	40					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60966137	60966137	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:60966137G>A	ENST00000279101.5	-	10	1335	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCAGGTCGCGCCTGTTGAAT	0.557000													13	34					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109604740	109604740	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:109604740C>A	ENST00000338432.7	+	3	847	c.728C>A	c.(727-729)aCc>aAc	p.T243N	ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	243					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGAGACTTTACCGTGGCTTCT	0.587000													4	44					0.00909568	0.00919142	1	1	0
HERC2P2	0	broad.mit.edu	37	15	23311933	23311933	+	RNA	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:23311933C>T	ENST00000560464.1	-	0	3266																											CGGCACTACACGGCTCTTCAC	0.627000													4	11					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159196883	159196883	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:159196883C>G	ENST00000283233.5	-	5	670	c.357G>C	c.(355-357)caG>caC	p.Q119H	CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATGTGCACTGTTGTTCTG	0.343000													6	42					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511478	75511478	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:75511478C>T	ENST00000318622.4	+	3	716	c.87C>T	c.(85-87)ctC>ctT	p.L29L	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000006777.6_Silent_p.L170L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	170						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TTCCGTGGCTCCTGCTGGGTG	0.607000													12	46					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567015	30567015	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:30567015G>A	ENST00000395091.2	-	3	1039	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R243C			Q96H86	ZN764_HUMAN	zinc finger protein 764	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCGCCGAGCGCTGCGTGAAG	0.687000													3	4					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944769	28944769	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:28944769G>A	ENST00000538922.1	+	4	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CD19_ENST00000567541.1_Silent_p.K258K|CD19_ENST00000324662.3_Silent_p.K258K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	258	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGCTGGAAAGTATTATTGTC	0.562000													13	19					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424084	2424084	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2424084C>T	ENST00000333256.6	+	3	664	c.221C>T	c.(220-222)cCa>cTa	p.P74L	TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	74										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCCAGCCACGGTG	0.662000													3	5					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127652088	127652088	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:127652088G>T	ENST00000531967.1	-	2	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	35							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAATCCATGGGATGTACTATA	0.398000													20	38					8.10497e-08	8.36642e-08	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5772949	5772949	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:5772949C>T	ENST00000381624.3	+	20	1975	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	638						integral to membrane		p.F638F(1)									TAAAGGAATTCGGGGGGCCCT	0.577000													6	35					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054451	50054451	+	Silent	SNP	T	T	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:50054451T>A	ENST00000376042.1	+	6	3580	c.3282T>A	c.(3280-3282)gcT>gcA	p.A1094A	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1094					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGAATCTGCTTCTGATAAAC	0.478000													8	36					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958825	78958825	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:78958825C>T	ENST00000370756.3	+	2	634	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370757.3_Missense_Mutation_p.R133W	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	133					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCCATTGAGCGGTGTATTGG	0.403000													38	101					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587765	55587765	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:55587765G>A	ENST00000333976.4	+	1	680	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A220A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483000													15	81					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376171	2376171	+	Silent	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:2376171G>A	ENST00000301732.5	-	5	859	c.159C>T	c.(157-159)aaC>aaT	p.N53N	ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGATGGTGGCGTTGGGCACAT	0.572000													10	27					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541620	190541620	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:190541620C>G	ENST00000520309.1	+	2	492	c.404C>G	c.(403-405)cCt>cGt	p.P135R	ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	135						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCAATTACCTCCAGCTTAT	0.348000													24	72					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85119689	85119689	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:85119689C>T	ENST00000357749.2	-	15	1937	c.1908G>A	c.(1906-1908)tcG>tcA	p.S636S	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Silent_p.S488S	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	636					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAAAGTCTCCGAGTTAGCCT	0.453000													4	16					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20227405	20227405	+	Splice_Site	SNP	C	C	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:20227405C>A	ENST00000379565.3	-	3	451		c.e3+1		RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000544447.1_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCATGACTTACCTTTCCAAAT	0.338000													39	97					3.61848e-18	3.94743e-18	1	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131704164	131704164	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:131704164C>T	ENST00000409359.1	+	4	4149	c.2951C>T	c.(2950-2952)aCg>aTg	p.T984M	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.T128M|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGTGCTCCAACGGGACTGAAC	0.527000													20	64					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133578	104133578	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:104133578C>G	ENST00000259407.2	-	2	217	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	BAAT_ENST00000395051.3_Missense_Mutation_p.E37Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	37					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTTCATCTTCCAGTGATGCC	0.478000													18	78					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397847	23397847	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:23397847G>A	ENST00000379361.4	+	2	1351	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	164					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGAATGCTCGGGCCACCAAT	0.473000													17	66					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693011	135693011	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:135693011C>T	ENST00000513104.1	-	2	347	c.65G>A	c.(64-66)cGt>cAt	p.R22H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGGCGACGGCCCTTCTC	0.597000													16	54					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600001	81600001	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81600001A>G	ENST00000356860.3	-	27	2532	c.2194T>C	c.(2194-2196)Tat>Cat	p.Y732H	CACNA2D1_ENST00000535308.1_Silent_p.F7F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y744H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	744						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCTTTGGGATAAACTCTGGTA	0.363000													20	58					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43395570C>T	ENST00000426263.3	-	5	831	c.653G>A	c.(652-654)cGc>cAc	p.R218H	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	218					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652000													14	35					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552632	69552632	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:69552632T>G	ENST00000337103.4	+	7	2386	c.794T>G	c.(793-795)aTg>aGg	p.M265R	C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000539993.1_Missense_Mutation_p.M290R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	290					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GATTTAAGAATGGAGGGAGTA	0.398000													13	35					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													4	43					0.150653	0.150653	1	1	0
EBF2	64641	broad.mit.edu	37	8	25747368	25747368	+	Silent	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:25747368C>T	ENST00000520164.1	-	8	1188	c.651G>A	c.(649-651)acG>acA	p.T217T	EBF2_ENST00000408929.3_Silent_p.T69T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	217					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACATTCACCGTTGTTGACA	0.428000													20	58					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48439304	48439304	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:48439304A>C	ENST00000321341.5	+	4	648	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	ME2_ENST00000382927.3_Missense_Mutation_p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	126					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTATGGACACATCTTTAGAAG	0.328000													25	52					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624684	39624684	+	Silent	SNP	G	G	A	rs150053966	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:39624684G>A	ENST00000265708.4	-	13	1402	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000347580.4_Silent_p.C414C|ADAM2_ENST00000379853.2_Silent_p.C307C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	433	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACAGTTTTCGCAGCATGGTC	0.348000													25	63					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649676	146649676	+	RNA	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:146649676C>G	ENST00000607149.1	+	0	350																											CGGCTGCCCCCACCCCACCTC	0.677000													6	7					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662000													7	16					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893419	144893419	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:144893419C>T	ENST00000356994.2	-	10	1009	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SCRIB_ENST00000320476.3_Missense_Mutation_p.V335M|SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	335	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGAGTGCCACACAGCCCCCG	0.677000													3	8					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196250026	196250026	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:196250026G>C	ENST00000367433.5	-	24	2903	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000294725.8_Missense_Mutation_p.I958M|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	958						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCCTGTAGATTCCAATGG	0.353000													12	34					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913359	77913359	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:77913359G>A	ENST00000321110.1	-	2	854	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	187	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCTGGGGAGGTGGAAGCTCA	0.537000													8	42					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381472	81381472	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81381472G>A	ENST00000222390.5	-	5	815	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C|HGF_ENST00000453411.1_Missense_Mutation_p.R192C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	197	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTTCGTAGCGTACCTCTGGA	0.483000													3	60					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672000													4	9					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71729545	71729545	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:71729545T>C	ENST00000393695.3	-	11	1088	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	253					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGCATCATGGCTATCTGT	0.562000			T	RARA	APL								4	27					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180669308	180669308	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:180669308C>G	ENST00000512805.1	-	2	555	c.147G>C	c.(145-147)gaG>gaC	p.E49D	GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	49					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATAGTTGGTCTCATCCCTGG	0.488000													4	24					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135348	46135348	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:46135348G>T	ENST00000371383.2	-	3	912	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	218						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATTTGTATGAGATATCCTAAC	0.443000													21	64					4.96729e-08	5.18326e-08	1	1	0
CASC4	113201	broad.mit.edu	37	15	44705563	44705563	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:44705563C>G	ENST00000299957.6	+	10	1569	c.1270C>G	c.(1270-1272)Cct>Gct	p.P424A	CASC4_ENST00000345795.2_Missense_Mutation_p.P368A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	199						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGGATCCTGCAGACTA	0.318000													4	31					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168806963	168806963	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:168806963T>C	ENST00000464456.1	-	14	4019	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G|MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATATTCTTCCTCTTTATACCT	0.303000													7	38					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651436	142651436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:142651436G>T	ENST00000355265.2	-	8	1233	c.759C>A	c.(757-759)taC>taA	p.Y253*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	253					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGATTCAGGTAAGTCAGGT	0.527000													20	80					4.63292e-17	4.99731e-17	1	1	0
MRPL35	51318	broad.mit.edu	37	2	86434352	86434352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:86434352delC	ENST00000337109.4	+	3	314	c.280delC	c.(280-282)tafs	p.L94fs	MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	94					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGTCAGATCTCTAACATACTT	0.403													11	25	---	---	---	---					
GABRR3	200959	broad.mit.edu	37	3	97727875	97727875	+	RNA	DEL	C	C	-	rs78317321		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:97727875delC	ENST00000472788.1	-	0	539					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGGCCGAAACCGTTATCCTA	0.403													2	4	---	---	---	---					
MEF2C-AS1	0	broad.mit.edu	37	5	88215294	88215295	+	RNA	INS	-	-	A	rs34178270		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:88215294_88215295insA	ENST00000514011.1	+	0	208				MEF2C-AS1_ENST00000506665.1_RNA|MEF2C-AS1_ENST00000508718.1_RNA|MEF2C-AS1_ENST00000513704.1_RNA|MEF2C-AS1_ENST00000514794.1_RNA|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C-AS1_ENST00000509179.1_RNA|MEF2C-AS1_ENST00000514092.1_RNA|MEF2C-AS1_ENST00000514158.1_RNA																							TCTGATTTCATAAAAAAAAAAA	0.327													3	5	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641906	55641907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:55641906_55641907insT	ENST00000343870.4	+	1	925_926	c.835_836insT	c.(835-837)tgcfs	p.C279fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAGCACTTCTGTTGCCCCCATG	0.371													19	42	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T	rs77187934		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)tttfs	p.F102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													4	9	---	---	---	---					
NOL12	79159	broad.mit.edu	37	22	38082445	38082445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:38082445delC	ENST00000359114.4	+	1	116	c.46delC	c.(46-48)cgfs	p.P16fs	RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	16						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGACCGGCGGCCGAGGCTCGT	0.627													2	4	---	---	---	---