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
PLIN4	729359	broad.mit.edu	37	19	4510855	4510855	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:4510855G>A	ENST00000301286.3	-	3	3074	c.3075C>T	c.(3073-3075)aaC>aaT	p.N1025N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1025						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCGCCACGTTCCCTGACC	0.647000													8	48					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786357	127786357	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:127786357G>A	ENST00000243253.3	+	10	1253	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	SEC61A1_ENST00000464451.1_Missense_Mutation_p.D363N|SEC61A1_ENST00000424880.2_Missense_Mutation_p.D237N|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	357					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CGTGTTAGAAGACCCGGTCCA	0.522000													8	90					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51298100	51298100	+	Silent	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:51298100C>G	ENST00000270593.1	+	10	1044	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	ACPT_ENST00000270594.3_Silent_p.L255L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	348						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCTGCCTCTCAGCCTCCCCG	0.677000													76	202					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998769	112998769	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:112998769C>T	ENST00000495514.1	+	13	2823	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	BOC_ENST00000273395.4_Missense_Mutation_p.R708C|BOC_ENST00000355385.3_Missense_Mutation_p.R707C			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	707					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTACAGCGGTCGCGTGTACGA	0.627000													6	58					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22922654	22922654	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:22922654C>G	ENST00000166244.3	+	9	1825	c.1753C>G	c.(1753-1755)Cag>Gag	p.Q585E		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	585						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGCACTATCAGAATGGACA	0.657000													5	42					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350973	89350973	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:89350973G>A	ENST00000301030.4	-	9	2437	c.1977C>T	c.(1975-1977)taC>taT	p.Y659Y	ANKRD11_ENST00000378330.2_Silent_p.Y659Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	659	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCATATTCGTAAGTAAAAC	0.383000													11	95					0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28618492	28618492	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:28618492C>G	ENST00000261714.6	-	2	222	c.48G>C	c.(46-48)caG>caC	p.Q16H	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	16					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						AATTCAGTTTCTGTATCAGAG	0.572000													7	99					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655354	6655354	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:6655354C>A	ENST00000299441.3	-	3	2392	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACCCCATCCACAGCTGTC	0.602000													8	73					0.00307968	0.0032089	1	1	0
IGHV3-64	28414	broad.mit.edu	37	14	107113848	107113848	+	RNA	SNP	A	A	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:107113848A>G	ENST00000454421.2	-	0	323																											CCCTTCACAGAGTCTGCATAA	0.488000													14	169					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134994	71134994	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr7:71134994G>C	ENST00000333538.5	+	8	1938	c.1304G>C	c.(1303-1305)aGa>aCa	p.R435T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	435						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGAAAGAAGAGCATTAAGG	0.463000													6	58					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102477157	102477157	+	Silent	SNP	G	G	T	rs149707073		TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:102477157G>T	ENST00000360184.4	+	32	6650	c.6486G>T	c.(6484-6486)tcG>tcT	p.S2162S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2162					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCCTGTCGGACGTGTTCC	0.552000													10	93					0.00621372	0.00642947	1	1	0
THUMPD3	25917	broad.mit.edu	37	3	9425935	9425935	+	Silent	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:9425935T>C	ENST00000345094.3	+	9	1609	c.1275T>C	c.(1273-1275)gcT>gcC	p.A425A	THUMPD3_ENST00000515662.2_Silent_p.A425A|THUMPD3_ENST00000452837.2_Silent_p.A425A|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	425							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTATCCAGCTTGCCTACGGG	0.428000													35	194					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726934	91726934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr7:91726934G>C	ENST00000359028.2	+	42	10670	c.10445G>C	c.(10444-10446)aGa>aCa	p.R3482T	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3428T|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3478T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3482					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATAGAACTAGAAATTGGGTT	0.358000			T	BRAF	papillary thyroid								5	27					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579765	43579765	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:43579765G>A	ENST00000406487.1	-	3	548	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	150	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGCTGGAGATGGAGGGCTTGG	0.498000													25	122					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8769120	8769120	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr20:8769120G>A	ENST00000378641.3	+	28	3611	c.3136G>A	c.(3136-3138)Gca>Aca	p.A1046T	PLCB1_ENST00000378637.2_Missense_Mutation_p.A1046T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.A1046T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1046					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GACGGATGTCGCAGAAGAGTG	0.383000													5	11					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77530275	77530275	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:77530275C>A	ENST00000461745.1	+	4	1472	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.S191Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.S207Y	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	191	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGATGATCTCCAATACCAGG	0.383000													7	73					1.76689e-08	1.92166e-08	1	1	0
SLTM	79811	broad.mit.edu	37	15	59182488	59182488	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr15:59182488T>C	ENST00000380516.2	-	15	2158	c.2071A>G	c.(2071-2073)Att>Gtt	p.I691V	SLTM_ENST00000536328.1_Missense_Mutation_p.I260V|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	691	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTGTTCAATACGAATGCGT	0.413000													10	62					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89838138	89838138	+	Nonsense_Mutation	SNP	G	G	C	rs113436495		TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:89838138G>C	ENST00000389301.3	-	23	2129	c.2099C>G	c.(2098-2100)tCa>tGa	p.S700*	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Nonsense_Mutation_p.S700*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	700					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTGAATCTTTGATATCTCAAC	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	59					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455004	187455004	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr4:187455004G>A	ENST00000307161.5	-	2	1093	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	298					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TTTTGGTTCAGTAGCCCGTAT	0.502000													9	79					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50354235	50354235	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:50354235C>T	ENST00000394688.3	-	15	1839	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	BRD7_ENST00000394689.2_Silent_p.Q561Q			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	560					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AACGTTCATTCTGGGCTTCCT	0.463000													9	60					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30426392	30426392	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr21:30426392G>A	ENST00000334352.4	+	19	2587	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	USP16_ENST00000399975.3_Missense_Mutation_p.E785K|USP16_ENST00000535828.1_Missense_Mutation_p.E415K|USP16_ENST00000399976.2_Missense_Mutation_p.E786K	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	786					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GACAGATTTTGAAATGGAATC	0.373000													4	22					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278758	152278758	+	Silent	SNP	A	A	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:152278758A>G	ENST00000368799.1	-	3	8639	c.8604T>C	c.(8602-8604)tcT>tcC	p.S2868S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2868	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAGTGTCTAGAGATGTCGG	0.562000									Ichthyosis				34	621					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811616	140811616	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr5:140811616G>A	ENST00000252085.3	+	1	1432	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAACCCCGCCCCTATCCA	0.522000													6	42					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134343004	134343004	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:134343004C>T	ENST00000357304.4	+	12	1830	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P592L|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P592L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	592							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGAGGCACCCACAGTGTCC	0.557000													4	28					0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2752370	2752370	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:2752370C>A	ENST00000301738.4	+	5	640	c.566C>A	c.(565-567)tCc>tAc	p.S189Y	KCTD5_ENST00000564195.1_Silent_p.L158L	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	189					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						AGCATCGGCTCCTCTTACAAC	0.607000													5	42					0.184627	0.185875	1	1	0
C20orf194	25943	broad.mit.edu	37	20	3240184	3240184	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr20:3240184G>C	ENST00000252032.9	-	33	3064	c.2997C>G	c.(2995-2997)atC>atG	p.I999M	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	999										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GACTTGGCTTGATGGAGGACT	0.532000													8	82					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189433990	189433990	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:189433990G>A	ENST00000409580.1	+	9	1138	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	GULP1_ENST00000409843.1_Missense_Mutation_p.G142S|GULP1_ENST00000359135.3_Missense_Mutation_p.G142S|GULP1_ENST00000409830.1_Missense_Mutation_p.G142S|GULP1_ENST00000409805.1_Missense_Mutation_p.G39S|GULP1_ENST00000409609.1_Missense_Mutation_p.G142S			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	142	PID.				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTAACAATTGGCCAAGCATT	0.333000													4	26					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704320	33704320	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:33704320C>T	ENST00000336934.5	-	5	610	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	STARD13_ENST00000255486.4_Missense_Mutation_p.R157Q|STARD13_ENST00000399365.3_Missense_Mutation_p.R47Q	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	165					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTGTCTCCTCGAGGGAGCAG	0.562000													5	27					0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74750318	74750318	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:74750318C>T	ENST00000219368.3	-	6	1035	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_ENST00000544337.1_Silent_p.S109S	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602000													4	27					0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111145939	111145939	+	Missense_Mutation	SNP	T	T	C	rs149776127		TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:111145939T>C	ENST00000485317.1	-	3	2139	c.1466A>G	c.(1465-1467)tAt>tGt	p.Y489C	KCNA2_ENST00000440270.1_Missense_Mutation_p.Y489C|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.Y489C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	489						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AATATTCACATAGTTTGTGTT	0.378000													4	40					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24944656	24944656	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr20:24944656G>C	ENST00000447138.1	-	8	886	c.851C>G	c.(850-852)tCt>tGt	p.S284C	APMAP_ENST00000217456.2_Silent_p.L348L					adipocyte plasma membrane associated protein																		CTTGACTAAAGAGCTAGAGGG	0.577000													13	61					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867834	45867834	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr20:45867834G>A	ENST00000311275.7	-	15	2526	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L	ZMYND8_ENST00000471951.2_Missense_Mutation_p.P778L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P695L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P778L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P753L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P753L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P706L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P778L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P758L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P785L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	758							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGTGTTTCCGGGGGAGAATG	0.592000													14	199					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108860980	108860980	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:108860980T>A	ENST00000356922.4	-	2	2909	c.2637A>T	c.(2635-2637)agA>agT	p.R879S	LIG4_ENST00000405925.1_Missense_Mutation_p.R879S|LIG4_ENST00000442234.1_Missense_Mutation_p.R879S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	879	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAAAAGTTCTTCTAAAAGCTT	0.323000								Non-homologous end-joining					6	22					0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937195	67937195	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chrX:67937195G>A	ENST00000252336.6	+	5	571	c.199G>A	c.(199-201)Gag>Aag	p.E67K	STARD8_ENST00000374599.3_Missense_Mutation_p.E147K|STARD8_ENST00000374597.3_Missense_Mutation_p.E67K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTCAAGCTGTGAGAGCGTCCT	0.637000													4	7					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15297741	15297741	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:15297741G>C	ENST00000263388.2	-	12	1974	c.1899C>G	c.(1897-1899)gtC>gtG	p.V633V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	633	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCACGGCAGACTCCAAAGG	0.587000													8	42					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965125	9965125	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:9965125G>A	ENST00000264833.4	-	6	1287	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	OLFM2_ENST00000590841.1_Missense_Mutation_p.R290C	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	368	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGCGCTGCGCTTGGGGTAG	0.622000													32	63					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23415832	23415832	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:23415832C>T	ENST00000206474.7	-	10	1246	c.994G>A	c.(994-996)Gag>Aag	p.E332K	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.E287K|RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Missense_Mutation_p.E206K|HAUS4_ENST00000541587.1_Missense_Mutation_p.E332K|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G161E|HAUS4_ENST00000490506.1_Missense_Mutation_p.E208K|HAUS4_ENST00000347758.2_Missense_Mutation_p.E206K|HAUS4_ENST00000555367.1_Missense_Mutation_p.E287K|HAUS4_ENST00000555986.1_Missense_Mutation_p.E287K			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	332					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCAAACTCCTCCCCAAGGACC	0.562000													6	27					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280897	238280897	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:238280897T>C	ENST00000295550.4	-	9	4215	c.3763A>G	c.(3763-3765)Ata>Gta	p.I1255V	COL6A3_ENST00000409809.1_Missense_Mutation_p.I1049V|COL6A3_ENST00000353578.4_Missense_Mutation_p.I1049V|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1055V|COL6A3_ENST00000392003.2_Missense_Mutation_p.I848V|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1054V|COL6A3_ENST00000472056.1_Missense_Mutation_p.I648V|COL6A3_ENST00000392004.3_Missense_Mutation_p.I1049V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1255	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCTCTCTATGAGGGTGCGA	0.572000													8	39					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97563232	97563232	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:97563232C>T	ENST00000375315.2	+	4	1312	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	C9orf3_ENST00000297979.5_Missense_Mutation_p.R438W|C9orf3_ENST00000395357.2_Missense_Mutation_p.R58W|C9orf3_ENST00000277198.2_Missense_Mutation_p.R438W	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	438					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CCCGTTCTCTCGGCTGGATGT	0.552000													22	62					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152353	117152353	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:117152353G>A	ENST00000530849.1	+	9	819	c.809G>A	c.(808-810)gGa>gAa	p.G270E	RNF214_ENST00000300650.4_Missense_Mutation_p.G425E|RNF214_ENST00000531287.1_Missense_Mutation_p.G270E|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Missense_Mutation_p.G425E			Q8ND24	RN214_HUMAN	ring finger protein 214	425							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTGAGGAACGGAGCCAAGCTG	0.458000													13	140					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171056743	171056743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:171056743G>A	ENST00000334231.6	+	3	297	c.297G>A	c.(295-297)atG>atA	p.M99I	MYO3B_ENST00000408978.4_Missense_Mutation_p.M90I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.M90I			Q8WXR4	MYO3B_HUMAN	myosin IIIB	90	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTATGGGATGTTTTACAAAG	0.443000													4	25					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:201437671C>T	ENST00000367311.3	-	1	641	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K|PHLDA3_ENST00000485436.1_5'UTR	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						AAGTCGATCTCGCCGCCCCCT	0.652000													10	77					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113718678	113718678	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:113718678G>A	ENST00000397030.1	+	6	686	c.649G>A	c.(649-651)Gag>Aag	p.E217K	MCF2L_ENST00000421756.1_Missense_Mutation_p.E188K|MCF2L_ENST00000423482.2_Missense_Mutation_p.E182K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E182K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E190K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E184K|MCF2L_ENST00000375608.3_Missense_Mutation_p.E214K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E241K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E214K|MCF2L_ENST00000375601.3_Missense_Mutation_p.E188K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	214	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCAGCTGACCGAGGACCTGGG	0.602000													11	60					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36081868	36081868	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr4:36081868C>T	ENST00000303965.4	-	31	5067	c.4578G>A	c.(4576-4578)acG>acA	p.T1526T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1526	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATCCACTCCGTCTGAGTTC	0.383000													3	12					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6444307	6444307	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:6444307C>T	ENST00000301454.4	-	9	1183	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	SLC25A23_ENST00000334510.5_Silent_p.L359L|SLC25A23_ENST00000414491.2_Silent_p.L120L	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	359					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCAGTTCTTCAGAGTCTGGA	0.607000													3	14					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088657	94088657	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:94088657C>T	ENST00000553484.1	+	31	5298	c.5144C>T	c.(5143-5145)tCc>tTc	p.S1715F	UNC79_ENST00000393151.2_Missense_Mutation_p.S1693F|UNC79_ENST00000256339.4_Missense_Mutation_p.S1516F|UNC79_ENST00000555664.1_Missense_Mutation_p.S1693F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1693						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGGATTGTTCCAAAGACTTT	0.527000													15	48					0	0	1	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827755	28827755	+	Silent	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr8:28827755G>T	ENST00000397358.3	+	4	923	c.219G>T	c.(217-219)ggG>ggT	p.G73G	HMBOX1_ENST00000519047.1_Silent_p.G73G|HMBOX1_ENST00000444075.1_Silent_p.G73G|HMBOX1_ENST00000558662.1_Silent_p.G73G|HMBOX1_ENST00000524238.1_Silent_p.G73G|HMBOX1_ENST00000403668.2_Silent_p.G73G|HMBOX1_ENST00000287701.10_Silent_p.G73G|HMBOX1_ENST00000523613.1_Silent_p.G73G|HMBOX1_ENST00000355231.5_Silent_p.G73G	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	73					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GTTCATATGGGAATAGTACTA	0.453000													4	38					1	1	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73732376	73732376	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:73732376G>A	ENST00000200181.3	+	15	1956	c.1769G>A	c.(1768-1770)tGt>tAt	p.C590Y	ITGB4_ENST00000449880.2_Missense_Mutation_p.C590Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.C590Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.C590Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.C590Y|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	590	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGCATCTGTAATGGACGT	0.627000													8	104					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48304149	48304149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:48304149G>A	ENST00000285737.4	+	7	1298	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	LONP2_ENST00000535754.1_Missense_Mutation_p.G358E	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	402					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTGCACTTGGAGGAGTATGT	0.453000													5	67					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27185605	27185605	+	Silent	SNP	G	G	A	rs114192384	byFrequency	TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:27185605G>A	ENST00000254928.5	+	7	820	c.723G>A	c.(721-723)ttG>ttA	p.L241L		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	241					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGATTGTTTGAAGCAGAAGT	0.552000													18	132					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31083988	31083988	+	Silent	SNP	A	A	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr6:31083988A>G	ENST00000376288.2	-	2	1430	c.1404T>C	c.(1402-1404)acT>acC	p.T468T	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	468					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CGGGGCCCCCAGTCAGTGTCA	0.597000													4	40					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919931	13919931	+	Silent	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:13919931G>T	ENST00000254323.2	+	5	1098	c.909G>T	c.(907-909)ctG>ctT	p.L303L	ZSWIM4_ENST00000440752.2_Silent_p.L20L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	303							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGCGCATGCTGATTCTCATGA	0.697000													8	63					5.4927e-09	6.01774e-09	1	1	0
AKR1E2	83592	broad.mit.edu	37	10	4879734	4879734	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:4879734G>C	ENST00000298375.7	+	5	614	c.543G>C	c.(541-543)ttG>ttC	p.L181F	AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.L181F|AKR1E2_ENST00000532248.1_Missense_Mutation_p.L181F	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	181						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGAGGCTTTTGAATAAGCCTG	0.527000													7	38					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118298	194118298	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:194118298G>A	ENST00000401815.1	-	1	785	c.714C>T	c.(712-714)ttC>ttT	p.F238F	GP5_ENST00000323007.3_Silent_p.F238F			P40197	GPV_HUMAN	glycoprotein V (platelet)	238					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGAGCCGGTCGAAGGCCCCGG	0.567000													28	169					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102546	61102546	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:61102546C>T	ENST00000196169.3	+	11	1696	c.908C>T	c.(907-909)tCa>tTa	p.S303L	TDRD3_ENST00000377881.2_Missense_Mutation_p.S303L|TDRD3_ENST00000377894.2_Missense_Mutation_p.S303L|TDRD3_ENST00000535286.1_Missense_Mutation_p.S396L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	303					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAATACAGATCATCAAATACT	0.373000													9	81					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272733	1272733	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:1272733C>G	ENST00000447027.1	+	31	14690	c.14632C>G	c.(14632-14634)Cac>Gac	p.H4878D	MUC5B_ENST00000529681.1_Missense_Mutation_p.H4875D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4875	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGAACAGCTCACACCCCCAA	0.657000													5	49					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65359467	65359467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:65359467C>T	ENST00000309295.4	+	18	4643	c.4378C>T	c.(4378-4380)Cag>Tag	p.Q1460*	EHBP1L1_ENST00000529596.1_Intron|EHBP1L1_ENST00000533364.1_Nonsense_Mutation_p.Q65*|AP001362.1_ENST00000597463.1_Intron	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1460										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AACGTCCGCTCAGCAGCACCG	0.652000													9	76					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:116520170C>T	ENST00000410059.1	+	12	1577	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	366					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353000													9	62					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46757143	46757143	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:46757143C>T	ENST00000460241.1	-	8	2022	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	PRSS50_ENST00000315170.7_Missense_Mutation_p.E118K			Q9UI38	TSP50_HUMAN	protease, serine, 50	118	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GCCACGGCTTCTGGGTCCCTG	0.627000													4	16					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43109248	43109248	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr15:43109248G>A	ENST00000267890.6	-	7	693	c.585C>T	c.(583-585)atC>atT	p.I195I	TTBK2_ENST00000567274.1_Silent_p.I160I|TTBK2_ENST00000567840.1_Silent_p.I195I	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	195	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GATGTGCGTTGATTGATGCAT	0.368000													6	28					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829101	96829101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:96829101C>T	ENST00000371270.3	-	1	153	c.59G>A	c.(58-60)tGg>tAg	p.W20*	CYP2C8_ENST00000535898.1_5'UTR|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	20					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTCTGTCTCCAGAGTGAAAA	0.448000													4	32					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076755	100076755	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:100076755C>T	ENST00000375202.2	+	20	2024	c.672C>T	c.(670-672)ctC>ctT	p.L224L	CCDC180_ENST00000529487.1_Silent_p.L224L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.L363L|CCDC180_ENST00000357054.1_Silent_p.L363L|CCDC180_ENST00000411667.2_Silent_p.L221L|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		TGAACCGTCTCTTCCTAAAGG	0.527000													5	56					0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533567	29533567	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr22:29533567C>A	ENST00000400338.2	+	6	922	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	KREMEN1_ENST00000327813.5_Missense_Mutation_p.P290Q|KREMEN1_ENST00000400335.4_Missense_Mutation_p.P290Q|KREMEN1_ENST00000407188.1_Missense_Mutation_p.P288Q			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	288	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						AGGAGCCGCCCACCTCTGTCC	0.542000													6	33					8.12818e-05	8.65071e-05	1	1	0
CAPZA1	829	broad.mit.edu	37	1	113212635	113212635	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:113212635C>G	ENST00000263168.3	+	10	1414	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	248					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAAACTATCAAACAATGTC	0.418000													7	50					0	0	1	0	0
DLX1	1745	broad.mit.edu	37	2	172952885	172952885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:172952885G>A	ENST00000361725.4	+	3	1120	c.668G>A	c.(667-669)gGg>gAg	p.G223E	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCTTCATCCGGGAAGGGCTCA	0.627000													9	92					0	0	1	0	0
BBC3	27113	broad.mit.edu	37	19	47725137	47725137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:47725137C>G	ENST00000439096.2	-	4	784	c.504G>C	c.(502-504)tgG>tgC	p.W168C	BBC3_ENST00000449228.1_Missense_Mutation_p.E203Q|BBC3_ENST00000341983.4_Missense_Mutation_p.W106C|BBC3_ENST00000300880.7_Missense_Mutation_p.E43Q	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	168					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		ACAGGACCCTCCAGGGTGAGG	0.622000													6	27					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46600948	46600948	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr12:46600948C>G	ENST00000398637.5	-	8	1247	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	SLC38A1_ENST00000549049.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E185Q|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E185Q	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	185					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAAATGTCTCTTCCTTTCCC	0.308000													5	22					0	0	1	0	0
MS4A5	64232	broad.mit.edu	37	11	60201334	60201334	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:60201334A>G	ENST00000300190.2	+	4	522	c.436A>G	c.(436-438)Att>Gtt	p.I146V	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	146						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TCAAAACTACATTTGTGGTTA	0.368000													12	53					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124036416	124036416	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:124036416G>C	ENST00000368994.2	+	3	383	c.132G>C	c.(130-132)ctG>ctC	p.L44L	BTBD16_ENST00000260723.4_Silent_p.L43L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	43										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GCAAGGCTCTGAGCATAGACT	0.562000													6	36					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20749188	20749188	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr16:20749188G>C	ENST00000381337.2	-	3	841	c.497C>G	c.(496-498)tCa>tGa	p.S166*	THUMPD1_ENST00000431224.2_Nonsense_Mutation_p.S252*|THUMPD1_ENST00000396083.2_Nonsense_Mutation_p.S166*	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	166	THUMP.									NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						GCATGTGCCTGAGATGGGTAA	0.363000													8	43					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5805041	5805041	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:5805041G>A	ENST00000339450.5	-	10	1989	c.1900C>T	c.(1900-1902)Ctc>Ttc	p.L634F	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000543230.1_Missense_Mutation_p.L212F	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	634					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TAGGACGAGAGAATCATTGTA	0.363000													8	28					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27004760	27004760	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:27004760G>A	ENST00000314616.6	+	8	1208	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E309K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	309					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAAGGGGGCTGAAGATGATGA	0.443000													9	132					0	0	1	0	0
GTF3A	2971	broad.mit.edu	37	13	28009278	28009278	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:28009278C>T	ENST00000381140.4	+	8	1076	c.882C>T	c.(880-882)ctC>ctT	p.L294L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	294					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		AGCAAAGTCTCACTAGGCATG	0.343000													5	38					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306151	2306151	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr4:2306151G>C	ENST00000290974.2	-	8	2255	c.1916C>G	c.(1915-1917)tCa>tGa	p.S639*	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S609*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S569*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	639					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGGGAACCTGAGGTGTGAGG	0.667000													8	110					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75078530	75078530	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:75078530C>T	ENST00000261978.4	-	1	504	c.118G>A	c.(118-120)Gta>Ata	p.V40I	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.V40I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	40					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TATCTCCCTACGGGGTCCCTT	0.706000													6	21					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215487	105215487	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:105215487G>A	ENST00000329905.5	-	2	709	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	191						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TCAGCAGCACGAAGGACCAGC	0.607000													4	39					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786858	127786858	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:127786858G>A	ENST00000243253.3	+	11	1384	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	SEC61A1_ENST00000464451.1_Silent_p.V406V|SEC61A1_ENST00000424880.2_Silent_p.V280V|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	400					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AGCAGATGGTGATGAGAGGCC	0.557000											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	72					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220087388	220087388	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:220087388C>T	ENST00000409618.1	-	11	2266	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	ATG9A_ENST00000409422.1_Silent_p.Q548Q|ATG9A_ENST00000361242.4_Silent_p.Q609Q|ATG9A_ENST00000396761.2_Silent_p.Q609Q			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	609					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGTAAGGACTGGATAGACG	0.577000													32	197					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622175	180622175	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr5:180622175G>C	ENST00000393315.1	-	7	1600	c.903C>G	c.(901-903)atC>atG	p.I301M	TRIM7_ENST00000274773.7_Missense_Mutation_p.I509M|TRIM7_ENST00000361809.3_Missense_Mutation_p.I301M|TRIM7_ENST00000393319.3_Missense_Mutation_p.I327M|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.I301M	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	509						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|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)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTCAAGGCCAGATTCGCAAGT	0.632000													4	31					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553061	19553061	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:19553061G>A	ENST00000536433.1	-	1	3616	c.506C>T	c.(505-507)tCc>tTc	p.S169F	OSR1_ENST00000272223.2_Missense_Mutation_p.S169F			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	169					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTTGGTCTTGGAAGGCAGACG	0.617000													16	61					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	336616	336616	+	Silent	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:336616C>A	ENST00000432829.2	+	12	1432	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	DOCK8_ENST00000453981.1_Silent_p.A440A|DOCK8_ENST00000469391.1_Silent_p.A372A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	440	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGACATTGGCCCAATCTAGAA	0.448000													7	22					2.0095e-06	2.16967e-06	1	1	0
HAX1	10456	broad.mit.edu	37	1	154246432	154246432	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:154246432C>G	ENST00000328703.7	+	3	712	c.499C>G	c.(499-501)Cat>Gat	p.H167D	HAX1_ENST00000483970.2_Missense_Mutation_p.H175D|HAX1_ENST00000457918.2_Missense_Mutation_p.H119D|HAX1_ENST00000532105.1_Missense_Mutation_p.H39D	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	167	Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGGCCATTTCATAGGGTGAG	0.542000									Kostmann syndrome				7	62					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383369	79383369	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:79383369C>T	ENST00000370742.3	-	12	1762	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	567					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGTTGTTTTCGGTGCTAAGC	0.279000													3	10					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183553	1183553	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:1183553G>A	ENST00000333813.3	+	1	597	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	86					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGGAGGGCGTCCTCCATCG	0.667000													14	61					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169484782	169484782	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:169484782G>C	ENST00000367796.3	-	24	6644	c.6443C>G	c.(6442-6444)tCt>tGt	p.S2148C	F5_ENST00000367797.3_Missense_Mutation_p.S2143C			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2143	F5/8 type C 2.		M -> T (in dbSNP:rs9332701).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S2143F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGGACAGAGACTTGCAGCC	0.413000													11	56					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692864	187692864	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:187692864C>G	ENST00000295131.2	-	9	1788	c.1749G>C	c.(1747-1749)tgG>tgC	p.W583C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	583					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGCTGTGCTCCAATTGACAA	0.378000													5	23					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103340046	103340046	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr8:103340046G>T	ENST00000520539.1	-	12	2011	c.1405C>A	c.(1405-1407)Caa>Aaa	p.Q469K	UBR5_ENST00000521922.1_Missense_Mutation_p.Q463K|UBR5_ENST00000220959.4_Missense_Mutation_p.Q469K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	469					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CGCTCTCCTTGAAGTTCAGAG	0.408000													16	41					1.5739e-10	1.73712e-10	1	1	0
UTP14C	9724	broad.mit.edu	37	13	52604242	52604242	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:52604242C>T	ENST00000521776.2	+	2	2035	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	434					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GATCTGAGCTCAACCAGGATG	0.448000													7	45					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424266	89424266	+	RNA	SNP	A	A	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:89424266A>G	ENST00000532352.1	+	0	1729							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AATCTACAATATTTCTATGAA	0.353000													8	60					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417769	116417769	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:116417769C>A	ENST00000277895.5	-	1	288	c.191G>T	c.(190-192)tGt>tTt	p.C64F	ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	64					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCTTGGGACAGAGATACAG	0.493000													5	49					0.184627	0.185875	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653935	159653935	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr6:159653935C>T	ENST00000297267.9	+	11	2591	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	FNDC1_ENST00000340366.6_Silent_p.G734G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGAAGACGGCGGAAGGCAGG	0.637000													3	15					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779996	159779996	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:159779996G>T	ENST00000321935.6	+	7	1106	c.1020G>T	c.(1018-1020)tgG>tgT	p.W340C	FCRL6_ENST00000368106.3_Missense_Mutation_p.W333C|FCRL6_ENST00000339348.5_Missense_Mutation_p.W333C|FCRL6_ENST00000392235.3_Missense_Mutation_p.W238C	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	333						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGAGATCCTGGAGAAAAGCTG	0.547000													7	62					0.00307968	0.0032089	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45523713	45523713	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:45523713C>T	ENST00000361462.2	+	16	4703	c.4520C>T	c.(4519-4521)tCa>tTa	p.S1507L	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1454L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1454							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATACAAGATCATCATCTGTT	0.373000													8	34					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488289	51488289	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chrX:51488289G>C	ENST00000340438.4	+	1	1809	c.1567G>C	c.(1567-1569)Gat>Cat	p.D523H		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	523					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACGCACGTTTGATGTTCAGAT	0.408000													7	43					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													19	256					0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150238948	150238948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:150238948G>A	ENST00000360244.4	-	6	1210	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	APH1A_ENST00000414276.2_Nonsense_Mutation_p.Q170*|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Nonsense_Mutation_p.Q240*	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	240					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCTGCGCTGAATACTTCGG	0.607000													5	46					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15599842	15599842	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr7:15599842G>C	ENST00000342526.3	-	2	350	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	61					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTCCTTTGAGAATCCAGCTG	0.438000													4	30					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293876	7293876	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr12:7293876C>T	ENST00000537408.1	+	8	1936	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	CLSTN3_ENST00000266546.6_Silent_p.L454L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	454					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCTGAACCTCGAGTTCCCCA	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	175					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308191	154308191	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr5:154308191C>T	ENST00000285873.7	-	6	885	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	270					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTCTTCAGAAAGGGCA	0.473000													10	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605187	179605187	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:179605187T>C	ENST00000589042.1	-	48	12997	c.12773A>G	c.(12772-12774)cAa>cGa	p.Q4258R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q4087R|TTN_ENST00000591111.1_Missense_Mutation_p.Q3941R|TTN_ENST00000359218.5_Missense_Mutation_p.Q4020R|TTN_ENST00000460472.2_Missense_Mutation_p.Q3895R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3941							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)			GAGCGCACTTTGTGCCTCTTG	0.468000													3	16					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6631278	6631278	+	Splice_Site	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr7:6631278G>C	ENST00000344417.5	+	2	461	c.194G>C	c.(193-195)aGa>aCa	p.R65T	C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	65										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTTTTGCAGAGACTGAATTCC	0.408000													5	70					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113252905	113252905	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:113252905G>C	ENST00000464951.1	-	11	2188	c.780C>G	c.(778-780)gtC>gtG	p.V260V	PPM1J_ENST00000359994.4_Silent_p.V260V|PPM1J_ENST00000309276.6_Silent_p.V466V|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	466	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCCCCAGGACCAGAGCTT	0.597000													7	60					0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572042	186572042	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:186572042C>T	ENST00000412955.2	+	3	425	c.284C>T	c.(283-285)cCg>cTg	p.P95L	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.P95L|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.P95L			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	95	Collagen-like.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CGAGGCTTTCCGGGAATCCAA	0.517000													6	47					0	0	1	0	0
ANP32E	81611	broad.mit.edu	37	1	150204216	150204216	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:150204216C>G	ENST00000314136.8	-	2	472	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	ANP32E_ENST00000436748.2_Missense_Mutation_p.E35Q|ANP32E_ENST00000369114.5_Missense_Mutation_p.E35Q|ANP32E_ENST00000369119.3_5'UTR|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.E35Q	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	35						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAGGCCTTCAATTTCCCCA	0.378000													8	44					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180818987	180818987	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:180818987C>T	ENST00000410053.3	-	16	1933	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R545Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	545	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AGCAACATTTCGCAACTTGTT	0.368000													3	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237946988	237946988	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:237946988T>A	ENST00000366574.2	+	90	12293	c.11976T>A	c.(11974-11976)aaT>aaA	p.N3992K	RYR2_ENST00000542537.1_Missense_Mutation_p.N3976K|RYR2_ENST00000360064.6_Missense_Mutation_p.N3998K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3992					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTTGTTAATGGAACGATTG	0.323000													4	8					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81574897	81574897	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr14:81574897G>C	ENST00000554435.1	+	9	723	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	TSHR_ENST00000554263.1_3'UTR|TSHR_ENST00000342443.6_Intron|RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000541158.2_Intron|TSHR_ENST00000298171.2_Intron			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	237					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCAAGGGTAGAAAATGTTGC	0.368000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						7	32					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662755	99662755	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chrX:99662755C>T	ENST00000373034.4	-	1	2516	c.841G>A	c.(841-843)Gtc>Atc	p.V281I	PCDH19_ENST00000420881.2_Missense_Mutation_p.V281I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V281I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	281	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGGTCGTTGACGTAGCCATAG	0.602000													8	65					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41533090	41533090	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr13:41533090G>C	ENST00000239882.3	-	3	449	c.135C>G	c.(133-135)ctC>ctG	p.L45L	ELF1_ENST00000442101.1_Silent_p.L45L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	45					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CATAACTATTGAGAATATCAG	0.438000													12	42					0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125763945	125763945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:125763945G>A	ENST00000227474.3	-	4	1278	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.S394F|HYLS1_ENST00000356438.3_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	394						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CTTTATGACAGAGGGCTTAAC	0.473000													5	56					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114986147	114986147	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr9:114986147G>C	ENST00000334318.6	-	15	1838	c.1652C>G	c.(1651-1653)tCa>tGa	p.S551*	PTBP3_ENST00000343327.2_Nonsense_Mutation_p.S453*|PTBP3_ENST00000374255.2_Nonsense_Mutation_p.S548*|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.S520*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.S554*	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	548					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGTAGATTTTGAGAAGGAAAC	0.403000													20	66					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407109	202407109	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:202407109C>T	ENST00000608999.1	+	10	1568	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S472F|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S472F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TATCGCTCCTCTTCAAGCCCT	0.478000													10	79					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271870	65271870	+	RNA	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:65271870G>C	ENST00000534336.1	+	0	6638					NR_002819.2																						GTACTGTTCTGATCCCGCTGC	0.388000													4	18					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681195	203681195	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:203681195G>C	ENST00000357681.5	+	13	3262	c.2139G>C	c.(2137-2139)ctG>ctC	p.L713L	ATP2B4_ENST00000341360.2_Silent_p.L713L|ATP2B4_ENST00000367218.3_Silent_p.L713L|ATP2B4_ENST00000367219.3_Silent_p.L701L|ATP2B4_ENST00000391954.2_Silent_p.L713L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	713					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGGCATTCTGACACCTGGGG	0.527000													11	62					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566291	155566291	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:155566291C>T	ENST00000295101.2	+	2	1356	c.879C>T	c.(877-879)ttC>ttT	p.F293F	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	293					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTGAACAGTTCGAGATTGTCG	0.403000													4	45					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52183972	52183972	+	Silent	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:52183972G>C	ENST00000394970.2	-	3	452	c.135C>G	c.(133-135)gtC>gtG	p.V45V	POC1A_ENST00000296484.2_Silent_p.V45V|POC1A_ENST00000474012.1_Silent_p.V7V	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	45						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCATGTGCCAGACCATGAGGC	0.572000													5	54					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717408	25717408	+	Splice_Site	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:25717408T>C	ENST00000349320.3	-	7	975		c.e7-2		RHCE_ENST00000243186.6_Splice_Site|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Splice_Site|RHCE_ENST00000425135.1_Splice_Site|RHCE_ENST00000294413.7_Splice_Site|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Splice_Site|RHCE_ENST00000413854.1_Splice_Site			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens							integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGGCGCCTGGGGGCCAGA	0.542000													7	87					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144889733	144889733	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr8:144889733C>G	ENST00000356994.2	-	16	2173	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.E723Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E642Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	723	Interaction with ARHGEF7.|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)			TCTTCCTCCTCAATGCGAGCA	0.627000													27	71					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108742638	108742638	+	Silent	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:108742638G>T	ENST00000565488.1	-	1	342	c.123C>A	c.(121-123)atC>atA	p.I41I	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Silent_p.I41I	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	41	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GCAGCTCGCCGATGTCCACCA	0.726000													6	13					0.0381472	0.0389311	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179730590	179730590	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:179730590C>T	ENST00000420890.2	-	17	2745	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	CCDC141_ENST00000295723.5_Silent_p.E301E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	301							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCTGTCCTCCTCAAGGAGCT	0.507000													20	125					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762600	43762600	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:43762600C>A	ENST00000244293.7	-	4	784	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	PSG9_ENST00000593948.1_Missense_Mutation_p.D240Y|PSG9_ENST00000443718.3_Missense_Mutation_p.D240Y|PSG9_ENST00000418820.2_Missense_Mutation_p.D240Y|PSG9_ENST00000291752.5_Missense_Mutation_p.D147Y|PSG9_ENST00000270077.3_Missense_Mutation_p.D333Y|PSG9_ENST00000596730.1_Missense_Mutation_p.D147Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	238					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGGGGAGGTCTGGACCATCT	0.493000													29	123					3.21399e-22	3.57377e-22	1	1	0
OSBPL5	114879	broad.mit.edu	37	11	3141765	3141765	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr11:3141765C>T	ENST00000263650.7	-	6	651	c.492G>A	c.(490-492)caG>caA	p.Q164Q	OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	164	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGCCCACCCACTGGCCCACCT	0.647000													11	79					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137654926	137654926	+	Silent	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr5:137654926C>T	ENST00000323760.6	-	7	875	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CDC25C_ENST00000356505.3_Silent_p.L169L|CDC25C_ENST00000514555.1_Silent_p.L169L|CDC25C_ENST00000357274.3_Silent_p.L156L|CDC25C_ENST00000348983.3_Silent_p.L126L|CDC25C_ENST00000415130.2_Silent_p.L126L|CDC25C_ENST00000513970.1_Silent_p.L199L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	199					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTGATCTTTCAGGGAAAACT	0.353000													6	38					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31665270	31665270	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:31665270G>T	ENST00000295770.2	+	11	1853	c.1644G>T	c.(1642-1644)atG>atT	p.M548I		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	548					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTATTGATGATGTTTGCTG	0.423000													6	49					0.00116845	0.00123474	1	1	0
TOX	9760	broad.mit.edu	37	8	60031503	60031503	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr8:60031503G>A	ENST00000361421.1	-	1	264	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	15						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGCGTCGGGCGCAGCGGCGGG	0.498000													10	46					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52917885	52917885	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr4:52917885G>A	ENST00000295213.4	+	1	389	c.15G>A	c.(13-15)ctG>ctA	p.L5L	SPATA18_ENST00000419395.2_Silent_p.L5L|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	5					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGGAAAACCTGAAAAGACTGG	0.567000													20	118					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78293187	78293187	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr17:78293187G>A	ENST00000319921.4	+	17	3240	c.3099G>A	c.(3097-3099)atG>atA	p.M1033I	RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000456466.1_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGGGCTATGAAGCACCCGC	0.577000													8	63					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12430445	12430445	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:12430445C>T	ENST00000293725.5	-	4	599	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E132K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCTGATACTCATGTGGTTTG	0.453000													13	88					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712347	218712347	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:218712347G>A	ENST00000171887.4	-	17	2970	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	TNS1_ENST00000419504.1_Missense_Mutation_p.P840S|TNS1_ENST00000430930.1_Missense_Mutation_p.P840S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	840						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGAGGCCAGGGAGAGAGGCT	0.607000													7	60					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7755183	7755183	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:7755183G>C	ENST00000358415.4	+	5	568	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.E123D	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	134	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTATTAAGGAGAAAACTGTGG	0.483000													4	41					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876736	148876736	+	Missense_Mutation	SNP	A	A	G	rs116863926		TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr7:148876736A>G	ENST00000420008.2	+	6	2047	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S	ZNF398_ENST00000426851.2_Missense_Mutation_p.N420S|ZNF398_ENST00000540950.1_Missense_Mutation_p.N596S|ZNF398_ENST00000475153.1_Missense_Mutation_p.N591S|ZNF398_ENST00000335901.4_Missense_Mutation_p.N420S|ZNF398_ENST00000483892.1_Missense_Mutation_p.N420S|ZNF398_ENST00000491174.1_Missense_Mutation_p.N420S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	591					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TCAGGCCACAATGGAGGCTGT	0.602000													10	64					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240078424	240078424	+	Silent	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:240078424G>A	ENST00000345617.3	-	7	1448	c.657C>T	c.(655-657)agC>agT	p.S219S	HDAC4_ENST00000541256.1_Silent_p.S188S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	219	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCGACACTCCGCTCTGGGGTG	0.557000													11	49					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5733206	5733206	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr4:5733206G>A	ENST00000382674.2	+	4	623	c.439G>A	c.(439-441)Gtt>Att	p.V147I	EVC_ENST00000264956.6_Missense_Mutation_p.V147I|EVC_ENST00000509451.1_Missense_Mutation_p.V147I			P57679	EVC_HUMAN	Ellis van Creveld syndrome	147					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAAGCAGGCTGTTTTGCCACA	0.597000													11	81					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150801570	150801570	+	Splice_Site	SNP	T	T	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr1:150801570T>C	ENST00000358595.5	-	12	1366	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	ARNT_ENST00000505755.1_Splice_Site_p.Q374R|ARNT_ENST00000515192.1_Splice_Site_p.Q375R|ARNT_ENST00000354396.2_Splice_Site_p.Q389R	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	389	PAS 2.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTCCTCACCTGTGGCTGGTA	0.453000			T	ETV6	AML								12	42					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51992348	51992348	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr3:51992348G>C	ENST00000461554.1	-	14	1272	c.941C>G	c.(940-942)tCt>tGt	p.S314C	PCBP4_ENST00000322099.7_Missense_Mutation_p.S314C|PCBP4_ENST00000428823.2_Missense_Mutation_p.S271C|PCBP4_ENST00000355852.2_Missense_Mutation_p.S314C|PCBP4_ENST00000395013.3_Missense_Mutation_p.S154C|PCBP4_ENST00000484633.1_Missense_Mutation_p.S271C|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000395014.2_Missense_Mutation_p.S335C	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	314						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGAGGTAGACTTGGCCGT	0.652000													3	10					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32842873	32842873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr2:32842873G>T	ENST00000421745.2	+	74	14610	c.14476G>T	c.(14476-14478)Gag>Tag	p.E4826*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4826					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CGATGCCCCAGAGGTGTGCAG	0.537000													5	27					0.014758	0.0151651	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75981700	75981700	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr15:75981700G>A	ENST00000308508.5	-	3	1798	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	569	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGCTTCTGCGTGTGTTCCAG	0.612000													4	28					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102750291	102750291	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr10:102750291C>T	ENST00000370228.1	+	3	1768	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	C10orf2_ENST00000311916.2_Missense_Mutation_p.S528F|C10orf2_ENST00000473656.1_3'UTR	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	528	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCAGCTGTCCACAGACAGG	0.498000													11	69					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075741	43075743	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr15:43075741_43075743delCCA	ENST00000267890.6	-	11	1179_1181	c.1071_1073delTGG	c.(1069-1074)aatggc>aac	p.G358del	TTBK2_ENST00000567274.1_In_Frame_Del_p.G323del|TTBK2_ENST00000567840.1_In_Frame_Del_p.G358del	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	358					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AACAGGGATGCCATTTTCTCCAT	0.473													8	253	---	---	---	---					
EBI3	10148	broad.mit.edu	37	19	4237029	4237029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A5BT-01A-11D-A26M-08	TCGA-FD-A5BT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a9bf4ef-30c2-467a-ae63-bc25ea881c59	939a9556-0a03-4f74-a07c-dcf4fa99671c	g.chr19:4237029delG	ENST00000221847.5	+	5	687	c.634delG	c.(634-636)gggfs	p.G212fs		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	212	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGACTACGGGGAACTGAG	0.637													8	44	---	---	---	---					
