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
GPR179	440435	broad.mit.edu	37	17	36483161	36483161	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:36483161G>A	ENST00000342292.4	-	11	6311	c.6291C>T	c.(6289-6291)agC>agT	p.S2097S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2097						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AACTGCCTCTGCTTCTGTCAG	0.582000													13	73					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345577	235345577	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:235345577C>G	ENST00000264183.3	-	20	3154	c.2657G>C	c.(2656-2658)aGa>aCa	p.R886T	ARID4B_ENST00000366603.2_Missense_Mutation_p.R886T|ARID4B_ENST00000349213.3_Missense_Mutation_p.R800T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGAGATTTTCTTTTTTCCTC	0.348000													20	92					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167904	161167904	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:161167904A>G	ENST00000367996.4	-	1	942	c.514T>C	c.(514-516)Tct>Cct	p.S172P	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.S172P	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	172					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCCCAGCAGAGTTAGGGGTG	0.637000													8	56					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42242386	42242386	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:42242386A>G	ENST00000327628.5	+	12	1667	c.1267A>G	c.(1267-1269)Atg>Gtg	p.M423V	TRAK1_ENST00000341421.3_Missense_Mutation_p.M365V|TRAK1_ENST00000396175.1_Missense_Mutation_p.M365V|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.M349V	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	423	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTCTCCCATGAACATCCC	0.567000													13	67					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113639609	113639609	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:113639609C>T	ENST00000200135.3	-	2	330	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	62	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCTTATCCACCTGGGTAATCA	0.433000													11	91					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175973	51175973	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:51175973C>T	ENST00000251020.4	-	2	193	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	54					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTGATAATTCAAAGAACTCG	0.458000													20	119					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316995	72316995	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:72316995T>C	ENST00000340595.3	+	8	1363	c.1167T>C	c.(1165-1167)tgT>tgC	p.C389C	SLC4A4_ENST00000512686.1_Silent_p.C389C|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.C433C|SLC4A4_ENST00000351898.6_Silent_p.C433C|SLC4A4_ENST00000425175.1_Silent_p.C433C	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	433						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGGGGATTGTGAAGAATTGC	0.433000													8	39					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696162	107696162	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696162C>A	ENST00000388781.3	-	25	3753	c.3670G>T	c.(3670-3672)Gtg>Ttg	p.V1224L	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1224L|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1224L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1224	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATTTCAGACACGTTCCCTCTG	0.423000													16	62					6.31663e-08	6.71896e-08	1	1	0
OR10H2	26538	broad.mit.edu	37	19	15839214	15839214	+	Missense_Mutation	SNP	G	G	A	rs113885700	byFrequency	TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:15839214G>A	ENST00000305899.3	+	1	381	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGGGCTACGACCGCTACGT	0.652000													6	55					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206243180	206243180	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:206243180C>T	ENST00000331555.5	-	3	720	c.82G>A	c.(82-84)Gcc>Acc	p.A28T		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	28						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TAGTTGATGGCGGTGAGGAAG	0.557000													13	53					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587186	33587186	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:33587186C>T	ENST00000170564.2	+	7	1000	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	229						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GATTTCACACCTAAAGATAAT	0.438000													14	87					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27042864	27042864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:27042864C>A	ENST00000395245.3	-	4	894	c.268G>T	c.(268-270)Gag>Tag	p.E90*	RAB34_ENST00000395243.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.E90*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.E147*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.E91*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.E90*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.E148*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.E90*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.E68*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	90					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.E90*(1)|p.E148*(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CGTTCCATCTCGAAGTCCACT	0.547000													29	105					1.80694e-10	1.93436e-10	1	1	0
XIST	7503	broad.mit.edu	37	X	73066414	73066414	+	RNA	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:73066414G>C	ENST00000429829.1	-	0	6174					NR_001564.2																						AAATGTCCAAGATGCATGCTT	0.473000													7	48					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97080990	97080990	+	Silent	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:97080990A>T	ENST00000253262.4	-	7	2048	c.2028T>A	c.(2026-2028)ctT>ctA	p.L676L	NUTM2F_ENST00000341207.4_Silent_p.L661L|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1			NUT family member 2F																		ATGGAGACTGAAGAGCTCCCT	0.612000													5	15					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452228	102452228	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:102452228A>T	ENST00000360184.4	+	8	1830	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	556	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				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						GTACGATGAGAGGATCGACAG	0.512000													12	35					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917375	11917375	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:11917375C>G	ENST00000323169.5	+	3	938	c.607C>G	c.(607-609)Cgc>Ggc	p.R203G	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCCTTTCGCAGACATGA	0.438000													23	18					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622401	41622401	+	Silent	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:41622401A>G	ENST00000331105.2	+	3	285	c.213A>G	c.(211-213)ggA>ggG	p.G71G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	71					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGCACCTGGGACCCAGGCGGG	0.612000													5	109					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120833323	120833323	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:120833323C>G	ENST00000263713.5	+	7	713	c.499C>G	c.(499-501)Ctg>Gtg	p.L167V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.L167V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L167V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L167V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L167V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	167	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCTTATAATCTGCAAGGTAA	0.323000													10	56					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93621908	93621908	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:93621908C>A	ENST00000370282.3	-	3	905	c.420G>T	c.(418-420)aaG>aaT	p.K140N	TMED5_ENST00000479918.1_Missense_Mutation_p.K140N|TMED5_ENST00000370280.1_Missense_Mutation_p.K140N|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	140					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TAATATATTTCTTCCAATCTT	0.353000													12	77					2.27111e-07	2.40048e-07	1	1	0
GIGYF2	26058	broad.mit.edu	37	2	233684583	233684583	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:233684583G>A	ENST00000373566.3	+	22	2680	c.2483G>A	c.(2482-2484)cGa>cAa	p.R828Q	GIGYF2_ENST00000409547.1_Missense_Mutation_p.R806Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R806Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R828Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R637Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R827Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R800Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	806	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCATTAAGGCGACAGCGAGAA	0.512000													5	22					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014100	86014100	+	Silent	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:86014100C>G	ENST00000359452.4	+	5	581	c.543C>G	c.(541-543)ctC>ctG	p.L181L	RGR_ENST00000358110.5_Silent_p.L177L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	177					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGCTTCCTCTTCACCATGT	0.562000													7	68					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39449964	39449964	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:39449964C>G	ENST00000257408.4	+	5	2890	c.2793C>G	c.(2791-2793)ttC>ttG	p.F931L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	931	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATTATGCATTCAAACTGGCTG	0.323000													7	34					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700050	36700050	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:36700050G>A	ENST00000255448.4	-	2	436	c.225C>T	c.(223-225)gcC>gcT	p.A75A	DCLK1_ENST00000360631.3_Silent_p.A75A|DCLK1_ENST00000379892.4_Silent_p.A75A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	75	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGGGAGATGGCATACACAA	0.527000													12	56					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													6	10					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40420125	40420125	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:40420125C>G	ENST00000221347.6	-	6	2876	c.2869G>C	c.(2869-2871)Gat>Cat	p.D957H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	957	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGCCCATCTGCTGCTTGG	0.582000													8	45					0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170738466	170738466	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:170738466G>A	ENST00000296921.5	+	3	821	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAACACGACGCCTTCCAAAA	0.652000			T	BCL11B	T-ALL								5	14					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54653382	54653382	+	Silent	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:54653382G>C	ENST00000406403.1	+	12	3097	c.1494G>C	c.(1492-1494)gtG>gtC	p.V498V	CNOT3_ENST00000358389.3_Silent_p.V317V|CNOT3_ENST00000221232.5_Silent_p.V498V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	498	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTCCTGGTGCCACTGCCTG	0.677000													5	23					0	0	1	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385794	22385794	+	RNA	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:22385794C>T	ENST00000390282.2	+	0	343				PRAMEF24P_ENST00000337471.4_RNA																							TGGGGCTGAGCGCTACCTCAC	0.577000													9	59					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520909	52520909	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:52520909A>G	ENST00000216286.5	-	4	897	c.898T>C	c.(898-900)Ttc>Ctc	p.F300L	NID2_ENST00000541773.1_Missense_Mutation_p.F247L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	300						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCATGGCTGAAGGAACGTCCC	0.517000													6	17					0	0	1	0	0
ABHD17C	58489	broad.mit.edu	37	15	81046631	81046631	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:81046631G>A	ENST00000258884.4	+	3	1037	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Missense_Mutation_p.G270R|ABHD17C_ENST00000560609.1_Missense_Mutation_p.G69R	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		TGAAGGGGCTGGGCATAATGA	0.473000													3	38					0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38465066	38465066	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:38465066G>A	ENST00000404072.3	+	6	723	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	PICK1_ENST00000356976.3_Missense_Mutation_p.V126M|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	126					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCACCGGCTGGTGGAGAACAT	0.632000													10	15					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	773582	773582	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:773582T>C	ENST00000319863.8	-	4	316	c.295A>G	c.(295-297)Acc>Gcc	p.T99A	PDDC1_ENST00000526325.1_Missense_Mutation_p.T99A|PDDC1_ENST00000397472.2_Missense_Mutation_p.T99A|PDDC1_ENST00000442059.2_Missense_Mutation_p.T49A|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	99						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCAGGTCGGTCAGGGCCCCA	0.637000													3	21					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179743	65179743	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr18:65179743T>C	ENST00000310045.7	-	2	3606	c.2133A>G	c.(2131-2133)ggA>ggG	p.G711G	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	701						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAATCTGAAGTCCAGGATTGG	0.363000													11	45					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674673	71674673	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:71674673C>T	ENST00000299952.4	+	3	1019	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	329	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCACGTGGCTCTGCAGATCAA	0.587000													4	48					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866452	7866452	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:7866452G>A	ENST00000378789.3	-	6	924	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	291	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCACACCCCCGTCCAGGAAGA	0.502000													15	120					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773175	113773175	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr13:113773175G>A	ENST00000375581.3	+	9	1289	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	F7_ENST00000541084.1_Silent_p.L349L|F7_ENST00000346342.3_Silent_p.L396L	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	418	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGTGGTACCTGACGGGCATCG	0.627000													8	18					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059573	59059573	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:59059573G>T	ENST00000361488.3	+	5	1664	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	262						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562000													13	94					9.31168e-06	9.71907e-06	1	1	0
SMG1	23049	broad.mit.edu	37	16	18840717	18840717	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:18840717G>C	ENST00000446231.2	-	54	9906	c.9494C>G	c.(9493-9495)tCt>tGt	p.S3165C	SMG1_ENST00000389467.3_Missense_Mutation_p.S3165C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3165					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTCGTAAGAACTTGCTAA	0.463000													3	41					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785416	52785416	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:52785416A>T	ENST00000439461.1	+	2	114	c.71A>T	c.(70-72)aAa>aTa	p.K24I	ZNF766_ENST00000593612.1_Missense_Mutation_p.K39I|ZNF766_ENST00000599581.1_Missense_Mutation_p.K24I|ZNF766_ENST00000359102.4_Missense_Mutation_p.K39I|ZNF766_ENST00000600821.1_Missense_Mutation_p.K19I	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAGGAGTGGAAATGCCTGGAC	0.463000													32	152					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681054	52681054	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:52681054G>T	ENST00000327741.5	-	7	1147	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	360	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.617000													8	45					7.48243e-07	7.8589e-07	1	1	0
KLHL42	57542	broad.mit.edu	37	12	27950650	27950650	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:27950650C>T	ENST00000381271.2	+	3	1380	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W		NM_020782.1	NP_065833.1			kelch-like family member 42																		TCTTTCAGACCGGAACATGAA	0.473000													45	328					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431659	140431659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:140431659C>T	ENST00000306549.3	+	1	681	c.604C>T	c.(604-606)Cga>Tga	p.R202*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCTGGACCGAGAGGAGCA	0.577000													4	27					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117109781	117109781	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:117109781A>T	ENST00000531452.1	+	3	618	c.572A>T	c.(571-573)gAt>gTt	p.D191V	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.D191V|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	191							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)		CAGGATGATGATCAAGATAGC	0.468000													13	75					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32613911	32613911	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:32613911C>G	ENST00000357033.4	-	13	1771	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	DMD_ENST00000378677.2_Missense_Mutation_p.G518A|DMD_ENST00000288447.4_Missense_Mutation_p.G514A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	522			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCGTGATCTCCACTAGATTC	0.353000													7	23					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23397351	23397351	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:23397351C>T	ENST00000324366.8	-	3	522	c.299G>A	c.(298-300)cGc>cAc	p.R100H	PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Missense_Mutation_p.R83H|PRMT5_ENST00000397441.2_Missense_Mutation_p.R83H|PRMT5_ENST00000216350.8_Intron	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	100					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GGAGTTCCTGCGAATCTTCTC	0.498000													5	40					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450946	138450946	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:138450946T>C	ENST00000344876.4	-	1	2683	c.2297A>G	c.(2296-2298)aAt>aGt	p.N766S	PCDH18_ENST00000507846.1_Missense_Mutation_p.N546S|PCDH18_ENST00000412923.2_Missense_Mutation_p.N766S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	766					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGAGTGCCATTTATGGTAGG	0.517000													11	55					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121732584	121732584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:121732584T>C	ENST00000264808.3	-	8	1126	c.886A>G	c.(886-888)Ata>Gta	p.I296V	PRDM5_ENST00000428209.2_Missense_Mutation_p.I265V|PRDM5_ENST00000515109.1_Missense_Mutation_p.I265V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	296					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTGAACATATAAGCTTTTTC	0.299000													4	27					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144802878	144802878	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:144802878G>A	ENST00000338033.4	+	9	904	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	262	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACAGGCCACGACAGACGCTG	0.662000													3	28					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195220	3195220	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3195220G>C	ENST00000323404.1	-	1	656	c.657C>G	c.(655-657)atC>atG	p.I219M	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGATATAGGAGATGACAATGA	0.537000													12	26					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33636358	33636358	+	Silent	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:33636358C>G	ENST00000374316.5	+	18	3013	c.1953C>G	c.(1951-1953)ctC>ctG	p.L651L	ITPR3_ENST00000605930.1_Silent_p.L651L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	651					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCCAAGAGCTCATCTGCAAGT	0.617000													12	37					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179251794	179251794	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179251794G>A	ENST00000190611.4	+	20	2460	c.2084G>A	c.(2083-2085)aGa>aAa	p.R695K	OSBPL6_ENST00000409631.1_Missense_Mutation_p.R659K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R664K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R720K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R659K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R699K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	695					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAGATATCAGATGGAAAAAC	0.398000													5	28					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031448	157031448	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:157031448C>G	ENST00000362010.2	-	11	2279	c.1972G>C	c.(1972-1974)Gaa>Caa	p.E658Q	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.E658Q|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392833.2_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	658						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATGGCAGTTTCAAAGCTGTGA	0.478000													12	46					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33620472	33620472	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:33620472G>C	ENST00000321505.4	+	12	4147	c.3967G>C	c.(3967-3969)Gag>Cag	p.E1323Q	KIAA1549L_ENST00000265654.5_3'UTR|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1329Q					KIAA1549-like																		AGTGACAAAGGAGGAGGCAAG	0.577000													5	22					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7796803	7796803	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:7796803T>C	ENST00000380358.4	+	5	887	c.886T>C	c.(886-888)Tcc>Ccc	p.S296P	CHD3_ENST00000330494.7_Missense_Mutation_p.S237P|CHD3_ENST00000358181.4_Missense_Mutation_p.S237P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	237					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATAGCACCCTCCGGACCCCC	0.652000													4	6					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696408	107696408	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:107696408G>A	ENST00000388781.3	-	25	3507	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	LAMB4_ENST00000205386.4_Missense_Mutation_p.P1142S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P1142S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1142	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTGTGTCTGGATCACAGATG	0.532000													8	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641976	179641976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:179641976G>A	ENST00000589042.1	-	27	4938	c.4714C>T	c.(4714-4716)Cga>Tga	p.R1572*	TTN_ENST00000360870.5_Nonsense_Mutation_p.R1572*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R1526*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R1526*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R1526*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R1572*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R1572*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1307	Ig-like 7.		Q -> R (in dbSNP:rs12476289).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1526*(3)|p.R1572*(2)		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)			ATTTCAAGTCGGGAACCTTCC	0.393000													21	70					0	0	1	0	0
C16orf90	646174	broad.mit.edu	37	16	3543865	3543865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:3543865G>A	ENST00000437192.3	-	3	525	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	165										large_intestine(1)	1						GCCCCAGAGCGGGTTCTCTTG	0.662000													3	7					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47305742	47305742	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:47305742A>G	ENST00000342922.4	+	11	2233	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	MADD_ENST00000402799.1_Missense_Mutation_p.M626V|MADD_ENST00000395336.3_Missense_Mutation_p.M626V|MADD_ENST00000395344.3_Missense_Mutation_p.M626V|MADD_ENST00000406482.1_Missense_Mutation_p.M626V|MADD_ENST00000349238.3_Missense_Mutation_p.M626V|MADD_ENST00000407859.3_Missense_Mutation_p.M626V|MADD_ENST00000311027.5_Missense_Mutation_p.M626V|MADD_ENST00000402192.2_Missense_Mutation_p.M626V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	626					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTGATAGTATGGATTATGA	0.423000													16	93					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764678	164764678	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:164764678T>A	ENST00000264382.3	-	16	1900	c.1838A>T	c.(1837-1839)gAa>gTa	p.E613V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	613	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATAGACCATTCCATTTGTTC	0.383000										HNSCC(35;0.089)			29	91					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119295660	119295660	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:119295660T>C	ENST00000338891.7	-	14	3291	c.2848A>G	c.(2848-2850)Atc>Gtc	p.I950V	FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	950										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCCCGCATGATATTTTTCTCT	0.338000													58	177					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944753	166944753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:166944753C>T	ENST00000510118.1	-	5	680	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.A97T|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.A89T			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	89	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCTTCATGGCGTAGAGCTGC	0.502000													17	85					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072823	17072823	+	Silent	SNP	G	G	A	rs137862002		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:17072823G>A	ENST00000359963.3	-	1	877	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.C206C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCAGCGCGCACACCCCAA	0.617000													4	83					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119049706	119049706	+	Missense_Mutation	SNP	C	C	T	rs150304837		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:119049706C>T	ENST00000334464.5	-	4	1491	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	418	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTCCAATGGCGATAAGTCGA	0.423000													13	47					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947189	68947189	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:68947189C>T	ENST00000456315.2	-	9	1983	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	DEPDC1_ENST00000370966.5_Missense_Mutation_p.M339I|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	623	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTCGGGAAATCATACGCATTA	0.393000													3	26					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104071492	104071492	+	Splice_Site	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071492G>T	ENST00000374874.3	+	5	824		c.e5-1		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN								integral to membrane	catalytic activity										TCTTCTTATAGGGGTGTTTGC	0.413000													11	99					6.40141e-05	6.59899e-05	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61621726	61621726	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:61621726C>T	ENST00000583023.1	+	12	2469	c.2458C>T	c.(2458-2460)Ctg>Ttg	p.L820L	KCNH6_ENST00000581784.1_Silent_p.L731L|KCNH6_ENST00000456941.2_Silent_p.L731L|KCNH6_ENST00000314672.5_Silent_p.L784L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	820					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTGCTGGCCTCTGAAGCTGGG	0.617000													9	19					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78099026	78099026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:78099026C>T	ENST00000370801.3	-	5	489	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACGAGTAGATCGGGAAGCAGC	0.403000													9	42					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9960234	9960234	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:9960234C>T	ENST00000295981.3	+	5	837	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	IL17RC_ENST00000413608.1_Missense_Mutation_p.R136C|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R136C|IL17RC_ENST00000416074.2_Missense_Mutation_p.R7C|IL17RC_ENST00000403601.3_Missense_Mutation_p.R136C|IL17RC_ENST00000383812.4_Missense_Mutation_p.R136C	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	207						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCTACTGCCCGCTGCGTCCT	0.572000													8	51					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29375604	29375604	+	Missense_Mutation	SNP	A	A	G	rs147860020		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:29375604A>G	ENST00000320081.5	+	9	1330	c.1075A>G	c.(1075-1077)Ata>Gta	p.I359V	CLIP4_ENST00000404424.1_Missense_Mutation_p.I359V|CLIP4_ENST00000401617.2_Missense_Mutation_p.I252V|CLIP4_ENST00000401605.1_Missense_Mutation_p.I359V	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	359										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAGGAAGAATATAACACACAC	0.363000													4	42					0	0	1	0	0
BRK1	55845	broad.mit.edu	37	3	10157479	10157479	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:10157479A>G	ENST00000530758.1	+	1	204	c.94A>G	c.(94-96)Atc>Gtc	p.I32V	BRK1_ENST00000256463.6_Missense_Mutation_p.I32V	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	32						cytoplasm|cytoskeleton				breast(1)|skin(1)	2						CATCAAGAAAATCGCAGACTT	0.632000													7	30					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635068	200635068	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:200635068G>A	ENST00000447706.2	-	2	952	c.801C>T	c.(799-801)ttC>ttT	p.F267F	DDX59_ENST00000367348.3_Silent_p.F267F|DDX59_ENST00000331314.6_Silent_p.F267F			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	267	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CACTTACCTCGAATAAAGCTC	0.368000													6	46					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97498327	97498327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr7:97498327G>C	ENST00000175506.4	-	4	670	c.142C>G	c.(142-144)Cac>Gac	p.H48D	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000422745.1_Missense_Mutation_p.H27D|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.H27D|ASNS_ENST00000394308.3_Missense_Mutation_p.H48D|ASNS_ENST00000394309.3_Missense_Mutation_p.H48D	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	48	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAACCGGTGAAATCCAAAG	0.448000													13	49					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611301	25611301	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:25611301C>T	ENST00000330688.4	+	4	922	c.501C>T	c.(499-501)tgC>tgT	p.C167C	RARB_ENST00000404969.1_Silent_p.C174C|RARB_ENST00000437042.2_Silent_p.C55C|RARB_ENST00000458646.1_Silent_p.C55C|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGCAAGAATGCACAGAGAGCT	0.493000													5	43					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112666473	112666473	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:112666473C>T	ENST00000550722.1	-	42	6619	c.6224G>A	c.(6223-6225)aGa>aAa	p.R2075K	HECTD4_ENST00000430131.2_Missense_Mutation_p.R1799K|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2049K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AACACAAAGTCTAGACAATGG	0.398000													6	58					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080540	178080540	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:178080540T>C	ENST00000411529.2	+	3	243	c.192T>C	c.(190-192)gtT>gtC	p.V64V	HNRNPA3_ENST00000435711.1_Silent_p.V86V|HNRNPA3_ENST00000392524.2_Silent_p.V86V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	86	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTCTTGTGTTGAAGAGGTGG	0.408000													17	95					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148735	69148735	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:69148735C>G	ENST00000306560.1	+	4	1384	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	HAS3_ENST00000569188.1_Missense_Mutation_p.L410V|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	410					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTGGAACATTCTCCTCTTCCT	0.547000													4	94					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44852484	44852484	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:44852484G>A	ENST00000326047.4	+	17	2267	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	KIF15_ENST00000425755.1_Silent_p.E341E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	706					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCTCCTGAGATGAATGAAC	0.343000													9	50					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627000													4	15					0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151732587	151732587	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:151732587T>C	ENST00000368830.3	-	7	827	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	MRPL9_ENST00000368829.3_Missense_Mutation_p.Y214C|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	248					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTACTTATATCTTTTGGT	0.498000													6	50					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368442	183368442	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:183368442A>G	ENST00000454652.1	+	4	684	c.298A>G	c.(298-300)Agg>Ggg	p.R100G	KLHL24_ENST00000476808.1_Missense_Mutation_p.R100G|KLHL24_ENST00000242810.6_Missense_Mutation_p.R100G			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	100	BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGACCACAGGGAAAGCCG	0.398000													52	119					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145704204	145704204	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704204C>G	ENST00000235933.6	-	2	315	c.213G>C	c.(211-213)gaG>gaC	p.E71D	CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.E71D|CD160_ENST00000369288.2_Missense_Mutation_p.E71D			O95971	BY55_HUMAN	CD160 molecule	71	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTAAACTGGTCTCAGGAGAAC	0.438000													10	78					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145135305	145135305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr8:145135305C>T	ENST00000316052.5	+	3	642	c.539C>T	c.(538-540)gCt>gTt	p.A180V	EXOSC4_ENST00000525936.1_Silent_p.S137S	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	180					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGAAGCAGCTGGTGGCCCC	0.657000													7	64					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592000													4	49					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46771969	46771969	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46771969T>C	ENST00000529230.1	-	42	5605	c.5559A>G	c.(5557-5559)ttA>ttG	p.L1853L	CKAP5_ENST00000415402.1_Silent_p.L1860L|CKAP5_ENST00000312055.5_Silent_p.L1793L|CKAP5_ENST00000354558.3_Silent_p.L1793L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1853					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TATATTCATATAACTCTGCTA	0.428000													15	51					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145704173	145704173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:145704173C>T	ENST00000235933.6	-	2	346	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.D82N|CD160_ENST00000369288.2_Missense_Mutation_p.D82N			O95971	BY55_HUMAN	CD160 molecule	82	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCAGGATCCCTTTTAAGT	0.463000													15	90					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32712139	32712139	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:32712139A>G	ENST00000265074.8	+	1	600	c.257A>G	c.(256-258)aAc>aGc	p.N86S	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.N86S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	86					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGAGGGCAACGGGACTGGG	0.632000													4	46					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63681511	63681511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:63681511C>T	ENST00000301459.4	-	8	1193	c.806G>A	c.(805-807)gGc>gAc	p.G269D		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGCCGTGAGGCCTTCAGGGCT	0.642000													17	129					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639472	70639472	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:70639472C>T	ENST00000322773.4	+	6	648	c.546C>T	c.(544-546)gtC>gtT	p.V182V		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	182	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AATCCCAGGTCATTTCACTTT	0.418000													11	68					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	G	A	rs112238716		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000													28	145					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154831199	154831199	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:154831199C>G	ENST00000607772.1	-	1	594	c.50G>C	c.(49-51)aGa>aCa	p.R17T		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	17	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCGCGCACCTCTAGTCCAGTC	0.647000													21	126					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401405	139401405	+	Missense_Mutation	SNP	C	C	T	rs112900950		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:139401405C>T	ENST00000277541.6	-	23	3739	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1222	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGTCGTCCACGTTGATCTCA	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	13					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89223667	89223667	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:89223667T>C	ENST00000527626.1	-	0	193				NOX4_ENST00000525196.1_Missense_Mutation_p.N38D|NOX4_ENST00000424319.1_Missense_Mutation_p.N14D|NOX4_ENST00000542487.1_Missense_Mutation_p.N14D|NOX4_ENST00000263317.4_Missense_Mutation_p.N38D|NOX4_ENST00000527956.1_Missense_Mutation_p.N14D|NOX4_ENST00000413594.2_Missense_Mutation_p.N59D|NOX4_ENST00000343727.5_Missense_Mutation_p.N14D|NOX4_ENST00000531342.1_Missense_Mutation_p.N38D|NOX4_ENST00000534731.1_Missense_Mutation_p.N38D|NOX4_ENST00000393282.2_Missense_Mutation_p.N38D|NOX4_ENST00000375979.3_Missense_Mutation_p.N38D|NOX4_ENST00000532825.1_Missense_Mutation_p.N14D|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000535633.1_Missense_Mutation_p.N14D			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGCCCTTGGTTATACAGCAAG	0.418000													15	63					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832564	130832564	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:130832564G>A	ENST00000357462.5	-	15	2574	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	POTEF_ENST00000409914.2_Silent_p.F827F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	827	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTGGGGTGTTGAAGGTCTCAA	0.612000													32	118					0	0	1	0	0
NUPR1	26471	broad.mit.edu	37	16	28549476	28549476	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:28549476C>T	ENST00000395641.2	-	2	267	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NUPR1_ENST00000324873.6_Splice_Site_p.G38_splice			O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	38					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						GCCTCCACCTCCTGTAACCAA	0.612000													18	103					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810400	124810400	+	Splice_Site	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:124810400C>A	ENST00000423114.2	-	12	1890	c.1890_splice	c.e12-1	p.A631_splice	SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.A602_splice|SLC12A8_ENST00000469902.1_Splice_Site_p.A602_splice|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.A403_splice			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	602					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GACCCAACAGCCTGTGAAAAC	0.468000													10	26					0.00621372	0.00632738	1	1	0
OR1N1	138883	broad.mit.edu	37	9	125289435	125289435	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:125289435G>A	ENST00000304880.2	-	1	137	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAGCCAATGGCCAGGATGA	0.502000													5	36					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58146066	58146066	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:58146066C>G	ENST00000544273.1	+	4	523	c.196C>G	c.(196-198)Cag>Gag	p.Q66E	ZNF211_ENST00000299871.5_Missense_Mutation_p.Q67E|ZNF211_ENST00000420680.1_Missense_Mutation_p.Q58E|ZNF211_ENST00000347302.3_Missense_Mutation_p.Q54E|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.Q67E|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000254182.7_5'UTR			Q13398	ZN211_HUMAN	zinc finger protein 211	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATGAGGCTCAGAAACACCT	0.502000													12	84					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986153	42986153	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42986153C>T	ENST00000326974.4	+	6	787	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	KLHDC3_ENST00000244670.8_Missense_Mutation_p.R64C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R139C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	198					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGGGGGCCGTGCCGACCG	0.577000													26	41					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104071519	104071519	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:104071519A>T	ENST00000374874.3	+	5	851	c.412A>T	c.(412-414)Act>Tct	p.T138S	LPPR1_ENST00000395056.2_Missense_Mutation_p.T138S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		138						integral to membrane	catalytic activity										ACTTTTTGCTACTGACATTTT	0.418000													13	92					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21335499	21335499	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:21335499C>T	ENST00000377191.3	+	21	2104	c.2009C>T	c.(2008-2010)aCt>aTt	p.T670I	XRN2_ENST00000430571.2_Missense_Mutation_p.T594I|XRN2_ENST00000539513.1_Missense_Mutation_p.T616I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	670					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAGACCTCACTCCAGAAGAG	0.398000													3	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	39					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492809	154492809	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:154492809C>T	ENST00000368482.4	+	5	1009	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TDRD10_ENST00000368480.3_Silent_p.F57F	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	57	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAAAGGACTTCAACCCTCTTG	0.423000													6	54					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760090	119760090	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chrX:119760090G>A	ENST00000304661.5	-	2	1170	c.932C>T	c.(931-933)cCt>cTt	p.P311L	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.P311L	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	311						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ACCATTTGGAGGTAAGAAAAC	0.378000													16	34					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96256763	96256763	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:96256763T>C	ENST00000453304.1	-	2	492	c.144A>G	c.(142-144)gaA>gaG	p.E48E	UNC5C_ENST00000504962.1_Silent_p.E48E|UNC5C_ENST00000506749.1_Silent_p.E48E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	48					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCTGGGAGTTCATGAAAAA	0.393000													5	24					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97007517	97007517	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:97007517G>A	ENST00000455200.1	+	2	419	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.E53K			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	53					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCCAGTCCTCGAAGACTTTCC	0.597000													18	91					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268491	1268491	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:1268491C>A	ENST00000447027.1	+	31	10448	c.10390C>A	c.(10390-10392)Ccc>Acc	p.P3464T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P3461T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3461	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		GTCCCTGCCCCCCAGCAGTCC	0.672000													3	56					1	1	1	1	0
CCDC61	729440	broad.mit.edu	37	19	46509871	46509871	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46509871C>T	ENST00000263284.2	+	5	457	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	CCDC61_ENST00000595358.1_Missense_Mutation_p.R96W|CCDC61_ENST00000594087.1_Missense_Mutation_p.R96W|CCDC61_ENST00000536603.1_Missense_Mutation_p.R96W					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GGAGTCCCTGCGGAACCGCAA	0.632000													9	28					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110199342	110199342	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:110199342C>T	ENST00000369836.4	+	2	354	c.45C>T	c.(43-45)caC>caT	p.H15H	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Silent_p.H15H|GSTM4_ENST00000326729.5_Silent_p.H15H	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	15	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	AGCTGGCCCACGCCATCCGCC	0.582000													23	127					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71166838	71166838	+	Splice_Site	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:71166838A>G	ENST00000373306.4	-	4	1482		c.e4+1		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GTGGGGGCTCACCTGTGGTTG	0.602000													8	56					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121156241	121156241	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:121156241G>A	ENST00000392870.2	+	4	625	c.296G>A	c.(295-297)gGa>gAa	p.G99E	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	99	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAAAAACTGGGAGAGAAAGGG	0.423000													13	75					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30624814	30624814	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:30624814T>A	ENST00000376442.3	-	13	2258	c.2063A>T	c.(2062-2064)tAt>tTt	p.Y688F	DHX16_ENST00000376437.5_Missense_Mutation_p.Y207F	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	688	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ATCCAGCACATAAATGATGCC	0.542000													5	24					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62785134	62785134	+	Missense_Mutation	SNP	G	G	C	rs7358652		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:62785134G>C	ENST00000280377.5	+	16	2216	c.2158G>C	c.(2158-2160)Ggc>Cgc	p.G720R	USP15_ENST00000353364.3_Missense_Mutation_p.G691R|USP15_ENST00000393654.3_Missense_Mutation_p.G695R	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	720					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CAACAACTTAGGCAATACTGA	0.358000													12	83					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45746680	45746680	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr21:45746680G>A	ENST00000403390.1	+	23	2419	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	PFKL_ENST00000349048.4_Missense_Mutation_p.A760T			P17858	K6PL_HUMAN	phosphofructokinase, liver	760					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGTATGGCCGCCTACGTGTC	0.667000													3	9					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46319207	46319207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:46319207C>T	ENST00000245934.7	-	26	3833	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1197					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCTCGCACTCAGGCCCCTCC	0.682000													3	16					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46702656	46702656	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:46702656G>T	ENST00000311956.4	-	7	637	c.540C>A	c.(538-540)ttC>ttA	p.F180L		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	180	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCCCGAACTTGAAGCTGTTGG	0.602000													4	42					0.00909568	0.00920593	1	1	0
FAM13A	10144	broad.mit.edu	37	4	89660214	89660214	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:89660214C>G	ENST00000264344.5	-	20	2736	c.2529G>C	c.(2527-2529)caG>caC	p.Q843H	FAM13A_ENST00000508369.1_Missense_Mutation_p.Q517H|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q503H|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q517H|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q489H|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q429H	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGAGGATCTGTTTGACCA	0.493000													8	32					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527434	26527434	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:26527434G>A	ENST00000456354.2	+	8	1168	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	367					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTGTCGAACCTCTCAG	0.542000													7	53					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422963	42422963	+	Silent	SNP	A	A	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr22:42422963A>T	ENST00000328823.9	+	6	739	c.708A>T	c.(706-708)ctA>ctT	p.L236L	WBP2NL_ENST00000543212.1_Silent_p.L162L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTAGGATATGGAG	0.602000													46	181					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101821964	101821964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:101821964C>T	ENST00000254193.6	-	9	805	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	245						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTTCCATCTCTTCTTCACCA	0.418000													12	37					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51192739	51192739	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr14:51192739C>T	ENST00000245441.5	-	30	6314	c.6124G>A	c.(6124-6126)Gaa>Aaa	p.E2042K	NIN_ENST00000382043.4_Missense_Mutation_p.E1329K|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382041.3_Missense_Mutation_p.E2042K|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.E2042K	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2042					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTTCAACTTCTATCATTCGT	0.413000			T	PDGFRB	MPD								11	66					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208205080	208205080	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:208205080C>T	ENST00000367033.3	-	29	5837	c.5080G>A	c.(5080-5082)Gac>Aac	p.D1694N		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1694					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCAAACAAGTCGTCCACAAAC	0.577000													11	49					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587071	26587071	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:26587071A>G	ENST00000436318.2	-	2	549	c.416T>C	c.(415-417)tTg>tCg	p.L139S	ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.L139S|MUC15_ENST00000281268.8_Missense_Mutation_p.L139S|MUC15_ENST00000527569.1_Missense_Mutation_p.L139S|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.L112S			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	112						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GCTATGGATCAAGGGAGGGCT	0.453000													6	93					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901489	215901489	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:215901489C>T	ENST00000366943.2	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000307340.3_Silent_p.L3983L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTCCAATTCAACAGAACTG	0.498000										HNSCC(13;0.011)			14	91					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112610649	112610649	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:112610649C>T	ENST00000550722.1	-	67	11568	c.11173G>A	c.(11173-11175)Gtc>Atc	p.V3725I	HECTD4_ENST00000430131.2_Missense_Mutation_p.V3449I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V3699I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCATGTCGGACATCGATGCAT	0.587000													7	61					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201791527	201791527	+	Silent	SNP	G	G	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:201791527G>T	ENST00000234296.2	-	12	1263	c.1014C>A	c.(1012-1014)gtC>gtA	p.V338V		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	338					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						AGCCATTGATGACAACGTGAA	0.388000													9	75					0.00621372	0.00632738	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236722359	236722359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:236722359C>T	ENST00000366582.3	-	35	4961	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	HEATR1_ENST00000366581.2_Missense_Mutation_p.R1535H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1616					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGCTTTGCGGCGAACAGATGG	0.458000													14	55					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513583	75513583	+	Silent	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:75513583C>T	ENST00000332272.4	-	3	323	c.144G>A	c.(142-144)tcG>tcA	p.S48S	CHST6_ENST00000390664.2_Silent_p.S48S|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	48					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCGAGCGCCACGAGGACAGCA	0.672000													3	21					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88925620	88925620	+	Splice_Site	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:88925620C>T	ENST00000277141.6	-	19	3670		c.e19+1		ZCCHC6_ENST00000375960.2_Splice_Site|ZCCHC6_ENST00000375963.3_Splice_Site|ZCCHC6_ENST00000375957.1_Splice_Site|ZCCHC6_ENST00000375961.2_Splice_Site			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAAATCTTACCAATGTGTTA	0.353000													4	21					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238891	69238891	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:69238891T>C	ENST00000310673.3	+	2	1172	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	340					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TATGTGTAGATCAAGGAGAGT	0.274000													10	40					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2052728	2052728	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr16:2052728G>A	ENST00000563630.1	-	4	548	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ZNF598_ENST00000431526.1_Silent_p.F157F|ZNF598_ENST00000562103.1_Silent_p.F102F			Q86UK7	ZN598_HUMAN	zinc finger protein 598	157						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCATATGTGAAGATCTACA	0.657000													3	10					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516967	53516967	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:53516967C>T	ENST00000301466.3	+	13	1399	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	447					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GTTCTTCTATCCCGTCATGCT	0.592000													11	52					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	209868	209868	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:209868G>A	ENST00000526104.1	+	3	1938	c.594G>A	c.(592-594)ctG>ctA	p.L198L	RIC8A_ENST00000527696.1_Silent_p.L192L|RIC8A_ENST00000325207.5_Silent_p.L198L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	198						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACTGGAGCTGACGCTGGGGG	0.597000													12	47					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42222641	42222641	+	Silent	SNP	C	C	T	rs143046982		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:42222641C>T	ENST00000541110.1	-	13	3232	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	TRERF1_ENST00000340840.2_Silent_p.L785L|TRERF1_ENST00000372922.4_Silent_p.L868L|TRERF1_ENST00000354325.2_Silent_p.L785L|TRERF1_ENST00000372917.4_Silent_p.L785L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	868	Interacts with CREBBP.|SANT.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCTTCCGCAGTAGCAGCA	0.522000													12	31					0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24658077	24658077	+	Silent	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:24658077G>A	ENST00000341060.3	-	3	701	c.306C>T	c.(304-306)taC>taT	p.Y102Y	TDP2_ENST00000378198.4_Silent_p.Y160Y|TDP2_ENST00000545995.1_Silent_p.Y190Y|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	160					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTTCTTTAGGTAGCTATAAT	0.299000								Direct reversal of damage					10	51					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71828648	71828648	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:71828648C>T	ENST00000258104.3	+	35	4140	c.3863C>T	c.(3862-3864)cCt>cTt	p.P1288L	DYSF_ENST00000413539.2_Missense_Mutation_p.P1319L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.P1306L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1289L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1320L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1289L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1288L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1275L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1306L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1305L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1305L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1288						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCATATTCCTGGTTTTGAG	0.512000													7	47					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5804550	5804550	+	Silent	SNP	T	T	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:5804550T>C	ENST00000328090.5	+	20	7855	c.7230T>C	c.(7228-7230)gaT>gaC	p.D2410D		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2410																	TTGTTACAGATGTAAATAACT	0.303000													8	71					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152483523	152483523	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr2:152483523A>G	ENST00000397345.3	-	70	10542	c.10340T>C	c.(10339-10341)aTg>aCg	p.M3447T	NEB_ENST00000427231.2_Missense_Mutation_p.M3447T|NEB_ENST00000409198.1_Missense_Mutation_p.M3204T|NEB_ENST00000172853.10_Missense_Mutation_p.M3204T|NEB_ENST00000603639.1_Missense_Mutation_p.M3447T|NEB_ENST00000604864.1_Missense_Mutation_p.M3447T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3447					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACCTTGTTCATATTGAGAGC	0.408000													16	61					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75826972	75826972	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr11:75826972G>A	ENST00000356136.3	+	14	1551	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	UVRAG_ENST00000539288.1_Missense_Mutation_p.R65K|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000533454.1_Missense_Mutation_p.R65K|UVRAG_ENST00000528420.1_Missense_Mutation_p.R336K|UVRAG_ENST00000532130.1_Missense_Mutation_p.R65K|UVRAG_ENST00000531818.1_Missense_Mutation_p.R65K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	437					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCACAGCTAAGATATCAACAT	0.373000													5	25					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3417907	3417907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:3417907G>A	ENST00000301365.4	-	17	2389	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	TRPV3_ENST00000576742.1_Missense_Mutation_p.P753L|TRPV3_ENST00000572519.1_Missense_Mutation_p.P753L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	753						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TACAGGCCCCGGGTCTTCGTT	0.498000													7	25					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700733	55700733	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr10:55700733G>C	ENST00000373965.2	-	25	3540	c.3146C>G	c.(3145-3147)cCt>cGt	p.P1049R	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1042R|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1049R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P971R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1042R|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1047R|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1042R|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1020R|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1042R|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1005R|PCDH15_ENST00000409834.1_Missense_Mutation_p.P653R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1042	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACTGGAGGAGGTCTGCAGGT	0.348000										HNSCC(58;0.16)			5	21					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917476	186917476	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr3:186917476C>T	ENST00000312295.4	+	2	440	c.410C>T	c.(409-411)aCg>aTg	p.T137M	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	137					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GAGTGCGGCACGGCGCGGCTG	0.662000													8	40					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2086833	2086833	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr9:2086833G>A	ENST00000382203.1	+	18	2740	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R844Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R844Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	844	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTATAGATTCGGTGGAAATAC	0.468000													15	56					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52141938	52141938	+	Silent	SNP	T	T	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr6:52141938T>A	ENST00000596288.1	-	8	1254	c.1227A>T	c.(1225-1227)cgA>cgT	p.R409R	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Silent_p.R318R|MCM3_ENST00000229854.7_Silent_p.R364R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGGGGATAGCTCGGGGTGCAG	0.592000													12	50					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	61					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687355	8687355	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:8687355G>A	ENST00000299663.3	-	6	704	c.539C>T	c.(538-540)gCc>gTc	p.A180V	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.A135V	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	180	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TCTCATGGTGGCACAGTCCTC	0.413000													18	55					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329703	54329703	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr5:54329703G>C	ENST00000231009.2	+	5	814	c.744G>C	c.(742-744)aaG>aaC	p.K248N	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTTAACCAAGAAATACCAGA	0.423000													6	58					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738784	176738784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr1:176738784G>C	ENST00000367662.3	+	16	5529	c.4365G>C	c.(4363-4365)caG>caC	p.Q1455H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1455	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGGACCAGAATGTGAGCT	0.468000													16	57					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187557335	187557336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr4:187557335_187557336insA	ENST00000441802.2	-	6	4235_4236	c.4026_4027insT	c.(4024-4029)cattgafs	p.*1343fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1343	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCATTCAATATGGAGTCTGG	0.436										HNSCC(5;0.00058)			8	40	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57920022	57920022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr12:57920022delC	ENST00000355673.3	+	6	1627	c.1271delC	c.(1270-1272)tcfs	p.S424fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.S424fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	424	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGCCCTTCCCACTCTGAT	0.627													12	102	---	---	---	---					
OR4N4	283694	broad.mit.edu	37	15	22382920	22382921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr15:22382920_22382921insT	ENST00000328795.4	+	1	539_540	c.448_449insT	c.(448-450)tggfs	p.W150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTCTGTGGCTTGGGGGTTTT	0.535													20	95	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													45	32	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304		TCGA-CN-6016-01A-11D-1683-08	TCGA-CN-6016-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb6e29c-864d-483f-a848-8a61202d9516	06bd7b3a-430d-4d4f-8846-e7997440d241	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.4	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)del	p.PAPGVHP360del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742													3	5	---	---	---	---