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
CYP26B1	56603	broad.mit.edu	37	2	72362513	72362513	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:72362513C>G	ENST00000001146.2	-	3	668	c.465G>C	c.(463-465)gaG>gaC	p.E155D	CYP26B1_ENST00000412253.1_5'UTR|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E80D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	155					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GCAGGTAACTCTCCAGGGCCT	0.627000													24	83					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852871	196852871	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:196852871A>G	ENST00000312428.6	-	13	1536	c.1436T>C	c.(1435-1437)gTt>gCt	p.V479A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	479	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCATAATAACTTCCTTGAT	0.373000													12	39					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647510	56647510	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:56647510C>G	ENST00000267116.7	-	9	1102	c.981G>C	c.(979-981)caG>caC	p.Q327H		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	327							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCATACCATTCTGGATGAGGA	0.507000													8	27					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69347677	69347677	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:69347677G>A	ENST00000260364.5	+	16	2250	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	NOX5_ENST00000455873.3_Missense_Mutation_p.R633H|NOX5_ENST00000448182.3_Missense_Mutation_p.R622H|NOX5_ENST00000530406.2_Missense_Mutation_p.R640H|NOX5_ENST00000388866.3_Missense_Mutation_p.R668H			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	668					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCAACAGGCCGCTTCCTGGAG	0.587000													9	27					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909511	123909511	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:123909511G>T	ENST00000330487.5	-	1	206	c.198C>A	c.(196-198)ttC>ttA	p.F66L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACATGTCAATGAAGGACAGGT	0.562000													10	86					9.31168e-06	9.84479e-06	1	1	0
SPCS3	60559	broad.mit.edu	37	4	177241293	177241293	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:177241293C>T	ENST00000503362.1	+	1	179	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	22					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGGCGGCGCTCACCTTCGGCT	0.657000													14	27					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513719	165513719	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:165513719G>A	ENST00000294818.1	+	1	476	c.186G>A	c.(184-186)gaG>gaA	p.E62E	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	62						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTGAACGAGAACAGAATCA	0.473000													10	89					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51319047	51319047	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:51319047G>C	ENST00000548553.1	+	2	1207	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	METTL7A_ENST00000332160.4_Missense_Mutation_p.E76Q			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	76						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CTCCCTGCTGGAAGTGGGCTG	0.542000													14	36					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207841	4207841	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:4207841C>T	ENST00000600132.1	+	10	984	c.708C>T	c.(706-708)ggC>ggT	p.G236G	ANKRD24_ENST00000262970.5_Silent_p.G326G|ANKRD24_ENST00000318934.4_Silent_p.G236G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	236										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTGCAGGGCGGAGCCCAGC	0.672000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243768	51243768	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:51243768C>G	ENST00000245441.5	-	7	755	c.565G>C	c.(565-567)Gaa>Caa	p.E189Q	NIN_ENST00000382043.4_Missense_Mutation_p.E189Q|NIN_ENST00000453196.1_Missense_Mutation_p.E189Q|NIN_ENST00000324330.9_Missense_Mutation_p.E189Q|NIN_ENST00000389868.3_Missense_Mutation_p.E189Q|NIN_ENST00000530997.2_Missense_Mutation_p.E189Q|NIN_ENST00000382041.3_Missense_Mutation_p.E189Q	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	189	EF-hand 3.				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)					TCACAAACTTCTTGCAGTTTC	0.478000			T	PDGFRB	MPD								10	53					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929394	121929394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:121929394G>A	ENST00000265922.3	-	8	2715	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	752																	TGGTCCGACTGTTTGAGGATC	0.493000													70	59					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363419	182363419	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:182363419C>G	ENST00000397033.2	+	15	2040	c.1610C>G	c.(1609-1611)tCt>tGt	p.S537C		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	537					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATTTCTCTTCTAATGGAACT	0.368000													15	50					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36550873	36550873	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:36550873T>G	ENST00000401500.2	+	3	308	c.273T>G	c.(271-273)tgT>tgG	p.C91W	WDR62_ENST00000270301.7_Missense_Mutation_p.C91W|WDR62_ENST00000388999.3_Missense_Mutation_p.C91W|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	91					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCCCAGCTGTGTGGTGGTGA	0.552000													14	90					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152474926	152474926	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:152474926C>A	ENST00000427231.2	-	74	11141	c.10939G>T	c.(10939-10941)Gtt>Ttt	p.V3647F	NEB_ENST00000604864.1_Missense_Mutation_p.V3647F|NEB_ENST00000603639.1_Missense_Mutation_p.V3647F|NEB_ENST00000172853.10_Missense_Mutation_p.V3404F|NEB_ENST00000397345.3_Missense_Mutation_p.V3647F|NEB_ENST00000409198.1_Missense_Mutation_p.V3404F	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3647					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)		GCCCTAACAACTTCCAAGGAA	0.418000													21	32					4.35082e-09	4.67123e-09	1	1	0
TLN2	83660	broad.mit.edu	37	15	63055832	63055832	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:63055832G>A	ENST00000561311.1	+	39	5262	c.5032G>A	c.(5032-5034)Gag>Aag	p.E1678K	TLN2_ENST00000306829.6_Missense_Mutation_p.E1678K|TLN2_ENST00000472902.1_Missense_Mutation_p.E71K			Q9Y4G6	TLN2_HUMAN	talin 2	1678					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCGGGACATCGAGCAGGCCTC	0.607000													5	9					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74759930	74759930	+	Missense_Mutation	SNP	C	C	G	rs150647142		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:74759930C>G	ENST00000356924.4	-	8	884	c.741G>C	c.(739-741)atG>atC	p.M247I	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.M143I	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	247	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R248fs*30(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GGTCTGTCCTCATGTGCTCCA	0.622000													3	59					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17937584	17937584	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:17937584C>T	ENST00000458235.1	-	24	3442	c.3343G>A	c.(3343-3345)Gag>Aag	p.E1115K	JAK3_ENST00000527670.1_Missense_Mutation_p.E1115K	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1115					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTTTGCCCTCTGGGTGAGCA	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								47	76					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7132292	7132292	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:7132292G>C	ENST00000341500.5	-	13	2722	c.2683C>G	c.(2683-2685)Ctg>Gtg	p.L895V	INSR_ENST00000302850.5_Missense_Mutation_p.L907V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	907	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCGTTCCAGAGCGAAGTGC	0.647000													5	37					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710712	34710712	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:34710712C>G	ENST00000544216.3	+	8	1143	c.1066C>G	c.(1066-1068)Cca>Gca	p.P356A	LSM14A_ENST00000540746.2_Missense_Mutation_p.P315A|LSM14A_ENST00000433627.5_Missense_Mutation_p.P356A	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	356					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGAAGAAGATCCACTTGGACC	0.348000													14	22					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510756	84510756	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:84510756G>A	ENST00000542798.1	+	0	20				ZNF711_ENST00000395402.1_Missense_Mutation_p.D169N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D191N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D191N|ZNF711_ENST00000360700.4_Missense_Mutation_p.D191N			Q9Y462	ZN711_HUMAN	zinc finger protein 711						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AACCGAAGATGATGATGATGA	0.358000													34	44					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21654773	21654773	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:21654773G>T	ENST00000328843.6	+	21	3925	c.3894G>T	c.(3892-3894)caG>caT	p.Q1298H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q1298H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1298	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATGTTGCAGATGCAAGAAT	0.413000									Kartagener syndrome				9	28					0.00448238	0.00461569	1	1	0
FLG	2312	broad.mit.edu	37	1	152286265	152286265	+	Missense_Mutation	SNP	C	C	T	rs147509025		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:152286265C>T	ENST00000368799.1	-	3	1132	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	366	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R366H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGTCCACGAGAGGAAGT	0.562000									Ichthyosis				103	300					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987553	61987553	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:61987553G>C	ENST00000409186.1	-	5	2784	c.679C>G	c.(679-681)Cga>Gga	p.R227G	PCDH20_ENST00000409204.4_Missense_Mutation_p.R227G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	200	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATGGCCAGTCGGGTGTTTACA	0.532000													23	66					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5656005	5656005	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:5656005G>C	ENST00000354852.5	+	10	1899	c.1726G>C	c.(1726-1728)Gag>Cag	p.E576Q	TRIM34_ENST00000429814.2_Missense_Mutation_p.E222Q|TRIM34_ENST00000514226.1_Missense_Mutation_p.E222Q|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E222Q|HBG2_ENST00000380259.2_Intron	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		576						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGCTGAGGATGAGCTAGTTCA	0.478000													5	40					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186037081	186037081	+	Silent	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:186037081C>A	ENST00000271588.4	+	50	8050	c.7821C>A	c.(7819-7821)atC>atA	p.I2607I	HMCN1_ENST00000367492.2_Silent_p.I2607I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2607	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCTACCATCACCTGGTTTA	0.433000													37	72					2.19358e-23	2.4208e-23	1	1	0
SCG2	7857	broad.mit.edu	37	2	224462210	224462210	+	Silent	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:224462210G>T	ENST00000305409.2	-	2	2023	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	597					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTTGGTTGAGGTATTCCA	0.443000													17	68					2.35188e-11	2.54481e-11	1	1	0
NOX4	50507	broad.mit.edu	37	11	89177358	89177358	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:89177358G>A	ENST00000535633.1	-	5	630	c.320C>T	c.(319-321)tCa>tTa	p.S107L	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.S131L|NOX4_ENST00000525196.1_Missense_Mutation_p.S131L|NOX4_ENST00000413594.2_Missense_Mutation_p.S152L|NOX4_ENST00000542487.1_Missense_Mutation_p.S107L|NOX4_ENST00000528341.1_Missense_Mutation_p.S106L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.S107L|NOX4_ENST00000534731.1_Missense_Mutation_p.S131L|NOX4_ENST00000527956.1_Missense_Mutation_p.S107L|NOX4_ENST00000532825.1_Missense_Mutation_p.S107L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.S107L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	131	Ferric oxidoreductase.				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)				GTAATTCACTGAGAAGTTGAG	0.453000													15	57					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31084653	31084653	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:31084653C>G	ENST00000206595.6	+	14	1926	c.1772C>G	c.(1771-1773)tCt>tGt	p.S591C	G2E3_ENST00000438909.2_Missense_Mutation_p.S545C|G2E3_ENST00000553504.1_Missense_Mutation_p.S621C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	591	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAGAGTCTTTCTGCAAAAATC	0.403000													12	62					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35801059	35801059	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:35801059G>A	ENST00000361922.4	+	8	1664	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	MAG_ENST00000537831.2_Missense_Mutation_p.G480E|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Missense_Mutation_p.G505E	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	505	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTTCCAGGGAGCCCGTGAG	0.677000													10	26					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643960	138643960	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:138643960C>G	ENST00000394800.2	+	6	1405	c.856C>G	c.(856-858)Ccg>Gcg	p.P286A	MATR3_ENST00000502929.1_Missense_Mutation_p.P286A|MATR3_ENST00000510056.1_Missense_Mutation_p.P286A|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.P286A|MATR3_ENST00000361059.2_Missense_Mutation_p.P286A|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.P286A			P43243	MATR3_HUMAN	matrin 3	286						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGACTCTTACCGAAGGGTTA	0.423000													22	117					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526186	16526186	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:16526186C>T	ENST00000311331.7	-	6	2105	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCTCACATTCATTACATTTA	0.383000													37	85					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142413339	142413339	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:142413339G>A	ENST00000337777.3	+	11	1419	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	PLS1_ENST00000497002.1_Silent_p.R402R|PLS1_ENST00000457734.2_Silent_p.R402R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	402	Actin-binding 2.|CH 3.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAACATTTCGGAACTGGATGA	0.393000													10	40					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702742	6702742	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:6702742G>C	ENST00000309577.6	-	16	2517	c.2354C>G	c.(2353-2355)tCt>tGt	p.S785C	CHD4_ENST00000544484.1_Missense_Mutation_p.S782C|CHD4_ENST00000544040.1_Missense_Mutation_p.S778C|CHD4_ENST00000357008.2_Missense_Mutation_p.S785C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	785	Helicase ATP-binding.				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|zinc ion binding			central_nervous_system(2)	2						GATGATGGTAGAAAGAGGGGC	0.542000													21	80					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80085712	80085712	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:80085712G>C	ENST00000389641.4	-	17	2458	c.2422C>G	c.(2422-2424)Cag>Gag	p.Q808E	CCDC57_ENST00000392347.1_Missense_Mutation_p.Q808E|CCDC57_ENST00000392346.2_Missense_Mutation_p.Q165E			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	808										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGGGGAGCCTGGGGTGGCTTT	0.567000													5	59					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193205	132193205	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:132193205G>A	ENST00000359827.3	-	2	1210	c.248C>T	c.(247-249)aCg>aTg	p.T83M	PLXNA4_ENST00000378539.5_Missense_Mutation_p.T83M|PLXNA4_ENST00000423507.2_Missense_Mutation_p.T83M|PLXNA4_ENST00000321063.4_Missense_Mutation_p.T83M			Q9HCM2	PLXA4_HUMAN	plexin A4	83	Sema.					integral to membrane|intracellular|plasma membrane		p.T83M(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTCATGCGTCACCAAGAC	0.557000													16	39					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23353217	23353217	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:23353217G>A	ENST00000379361.4	+	1	1085	c.225G>A	c.(223-225)ccG>ccA	p.P75P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	75					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCTCTTCCCGGTCAACCGCT	0.647000													6	28					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26883156	26883156	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:26883156G>A	ENST00000374168.2	+	12	1082	c.928G>A	c.(928-930)Gat>Aat	p.D310N	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.D218N|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.D319N|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.D299N|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.D218N|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.D294N	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	310	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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCCGGCCCTGATGGGGCAGA	0.592000													11	40					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907513	60907513	+	Missense_Mutation	SNP	C	C	T	rs143551466	byFrequency	TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:60907513C>T	ENST00000252999.3	-	28	3533	c.3467G>A	c.(3466-3468)cGg>cAg	p.R1156Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1156	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGGTATCCCGGGCAGTGCC	0.692000													13	62					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6684419	6684419	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:6684419C>T	ENST00000245907.6	-	33	4244	c.4152G>A	c.(4150-4152)atG>atA	p.M1384I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1384					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTCAAGGATCATAGTGTTCT	0.453000													25	115					0	0	1	0	0
RP11-467N20.5	0	broad.mit.edu	37	15	23412180	23412180	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:23412180T>C	ENST00000558241.1	-	2	367	c.277A>G	c.(277-279)Acc>Gcc	p.T93A																	endometrium(1)	1						CCAGAAGTGGTTGTCTCAGGG	0.532000													16	38					0	0	1	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39925617	39925617	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:39925617C>T	ENST00000334678.3	-	4	407	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	97						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					GGCCCCGGTTCTGGCGCAAAA	0.632000											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	61					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816086	2816086	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:2816086C>T	ENST00000301740.8	+	11	6106	c.5557C>T	c.(5557-5559)Cgc>Tgc	p.R1853C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1853	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCGTTCTCGCTCACGCAC	0.627000													8	41					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852508	2852508	+	Missense_Mutation	SNP	G	G	A	rs141088568		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:2852508G>A	ENST00000334241.4	+	4	583	c.445G>A	c.(445-447)Gga>Aga	p.G149R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.G148R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CAACACGTACGGAAAAGTCTT	0.458000													13	64					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80546077	80546077	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:80546077G>A	ENST00000265361.3	-	2	582	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000419255.2_Silent_p.C7C|SEMA3C_ENST00000544525.1_Silent_p.C25C|SEMA3C_ENST00000536800.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	7					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAACCAACACGCAAATTGTCC	0.358000													15	37					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807923	20807923	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:20807923C>G	ENST00000601440.1	-	4	906	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGGGTTTCTCTCCAGTATGA	0.383000													4	112					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432459	140432459	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:140432459G>A	ENST00000306549.3	+	1	1481	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		468	Cadherin 5.				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)			ACAGTCCTGCGGTTTTTATTG	0.403000													5	65					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322416	182322416	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:182322416G>A	ENST00000397033.2	+	1	465	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.R12Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	12					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCGGCCCCCGAAGGGCCGCC	0.662000													5	7					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13074139	13074139	+	Silent	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:13074139C>G	ENST00000399002.2	+	6	1015	c.741C>G	c.(739-741)ctC>ctG	p.L247L	SPTLC3_ENST00000378194.4_Silent_p.L247L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	247					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGGGATGCCTCATTTTAAGTG	0.418000													9	80					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	726158	726158	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:726158C>T	ENST00000264560.7	+	2	220	c.26C>T	c.(25-27)aCg>aTg	p.T9M	PALM_ENST00000338448.5_Missense_Mutation_p.T9M	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	9					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GCAGAGACCACGTCCCAGCAG	0.672000													12	73					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880619	128880619	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:128880619G>C	ENST00000371106.3	+	6	644	c.452G>C	c.(451-453)gGa>gCa	p.G151A	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G151A	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	151					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATTCCTGCTGGAGGGCGTGTG	0.537000													6	71					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100384169	100384169	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:100384169C>T	ENST00000262233.6	+	16	1942	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	EML1_ENST00000327921.9_Silent_p.V589V|EML1_ENST00000334192.4_Silent_p.V620V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	601						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGTTGCAGTCGGAACACTCA	0.448000													6	32					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89819996	89819996	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:89819996G>C	ENST00000310775.7	+	13	1253	c.1167G>C	c.(1165-1167)ttG>ttC	p.L389F	FANCI_ENST00000300027.8_Missense_Mutation_p.L389F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	389					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTTTCATTTTGATGGATTCAT	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	74					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397084	125397084	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:125397084C>T	ENST00000536769.1	-	1	2810	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	UBC_ENST00000339647.5_Missense_Mutation_p.D412N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.D336N			P0CG48	UBC_HUMAN	ubiquitin C	412	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTCCTTGTCTTGGATCTTT	0.517000													32	161					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51142340	51142340	+	Silent	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:51142340C>G	ENST00000414786.2	+	13	1850	c.1623C>G	c.(1621-1623)tcC>tcG	p.S541S	SHANK3_ENST00000445220.2_Silent_p.S556S|SHANK3_ENST00000262795.3_Silent_p.S571S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	571										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CAGTGGGCTCCTACGACAGCC	0.642000													6	7					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45525816	45525816	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:45525816G>A	ENST00000359600.5	-	3	1261	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	352							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACAGTAACCGCCCTGGGAGA	0.453000													19	45					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	65					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220414543	220414543	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:220414543G>A	ENST00000344458.2	+	6	1635	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	TMEM198_ENST00000373883.3_Silent_p.L350L			Q66K66	TM198_HUMAN	transmembrane protein 198	350						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGGACCTCTGACAGCCTGCT	0.617000													16	58					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453506	37453506	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:37453506C>T	ENST00000379826.4	-	2	663	c.321G>A	c.(319-321)ctG>ctA	p.L107L	SMAD9_ENST00000350148.5_Silent_p.L107L|SMAD9_ENST00000399275.2_Silent_p.L107L	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	107	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCAGCGGCTTCAGCTCGTGGT	0.622000													12	26					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136651211	136651211	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:136651211G>A	ENST00000287538.5	+	2	1761	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R404H|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	404					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCTCCCTGCGCAAACACATG	0.577000													4	117					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117142607	117142607	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:117142607G>A	ENST00000369486.3	-	7	2750	c.1985C>T	c.(1984-1986)gCg>gTg	p.A662V	IGSF3_ENST00000318837.6_Missense_Mutation_p.A682V|IGSF3_ENST00000369483.1_Missense_Mutation_p.A682V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	662						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTCCTCTCCGCCAGTCGCGT	0.617000													7	32					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734518	12734518	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:12734518G>C	ENST00000380682.1	+	15	2446	c.1940G>C	c.(1939-1941)aGa>aCa	p.R647T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	647					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAATCTCCGAGAGGAGCTAAA	0.512000													19	181					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67299722	67299722	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:67299722C>A	ENST00000371026.3	-	12	1898	c.1843G>T	c.(1843-1845)Gat>Tat	p.D615Y	WDR78_ENST00000431318.1_Missense_Mutation_p.D361Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	615										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ATTCTTCCATCTGCTGATATA	0.343000													16	37					3.52763e-06	3.74388e-06	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167728913	167728913	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:167728913G>T	ENST00000230256.3	+	8	1522	c.1347G>T	c.(1345-1347)gaG>gaT	p.E449D	UNC93A_ENST00000366829.2_Missense_Mutation_p.E407D	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	449						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCAGGCAGAGGATGAAGAAA	0.532000													37	138					2.04263e-09	2.20159e-09	1	1	0
CEP89	84902	broad.mit.edu	37	19	33392309	33392309	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:33392309C>T	ENST00000305768.5	-	15	1663	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCTTCCTTCTGTAATTGGC	0.458000													4	126					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885545	88885545	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr8:88885545G>T	ENST00000319675.3	-	1	751	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	219										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAAATGACTGCTGGTGTCCC	0.532000													5	140					8.12818e-05	8.52844e-05	1	1	0
LRRC43	254050	broad.mit.edu	37	12	122677455	122677455	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:122677455C>G	ENST00000339777.4	+	7	1281	c.1253C>G	c.(1252-1254)tCg>tGg	p.S418W	LRRC43_ENST00000425921.1_Missense_Mutation_p.S233W	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	418								p.S233L(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCTGTCATCTCGGGGCCTTCG	0.577000													11	26					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47260078	47260078	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:47260078C>T	ENST00000318584.5	+	4	1668	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.F457F	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	457						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TTGCCGGCTTCGTGGCGCAGG	0.652000													3	7					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449779	44449779	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:44449779C>G	ENST00000360029.3	-	1	1045	c.762G>C	c.(760-762)gaG>gaC	p.E254D		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	254						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTCGCGGCTCTCGTTGAGCG	0.657000										HNSCC(17;0.042)			5	18					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590336	140590336	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:140590336G>A	ENST00000239450.2	+	1	2046	c.1857G>A	c.(1855-1857)gcG>gcA	p.A619A	PCDHB12_ENST00000541609.1_Silent_p.A282A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		619	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.687000													17	97					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128432461	128432461	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:128432461G>A	ENST00000464832.1	+	2	190	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	CCDC136_ENST00000297788.4_5'UTR|CCDC136_ENST00000487361.1_5'UTR|CCDC136_ENST00000378685.4_Missense_Mutation_p.R49Q			Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	0	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGGAACGACGGGGGATGCAA	0.587000													4	22					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024949	9024949	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:9024949G>A	ENST00000397910.4	-	16	37116	c.36913C>T	c.(36913-36915)Cgc>Tgc	p.R12305C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12307	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAAGGCGGTGGGTGCAG	0.552000													40	57					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743903	147743903	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:147743903G>C	ENST00000370460.2	+	3	1134	c.655G>C	c.(655-657)Gac>Cac	p.D219H	AFF2_ENST00000370457.5_Missense_Mutation_p.D215H|AFF2_ENST00000370458.1_Missense_Mutation_p.D215H|AFF2_ENST00000342251.3_Missense_Mutation_p.D215H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	219					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAAGGAAGACAGTAACCC	0.468000													68	204					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74888013	74888013	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:74888013C>T	ENST00000346246.5	+	9	1812	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	528	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCAGAGCCTCGgcagcagcg	0.637000													10	24					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75543923	75543923	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:75543923C>G	ENST00000297785.3	-	4	381	c.327G>C	c.(325-327)atG>atC	p.M109I	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.M109I	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	109					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCACCATTCATTGACTCCA	0.368000													27	21					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918688	43918688	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:43918688C>A	ENST00000261488.6	-	9	1599	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	ENOX1_ENST00000412891.1_Missense_Mutation_p.G341V|ENOX1_ENST00000540032.1_Missense_Mutation_p.G154V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	341					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AGTGAGAATCCCAGTTAAGGC	0.403000													9	67					0.00621372	0.00635129	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803460	185803460	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:185803460G>A	ENST00000302277.6	+	4	3931	c.3337G>A	c.(3337-3339)Gca>Aca	p.A1113T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1113						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgctgcagctgcagctgcagc	0.522000													27	81					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239410	151239410	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:151239410C>T	ENST00000274576.4	-	4	704	c.412G>A	c.(412-414)Gag>Aag	p.E138K	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.E55K|GLRA1_ENST00000455880.2_Missense_Mutation_p.E138K	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	138					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTGATCTCATGGAAGTGG	0.532000													5	79					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738758	41738758	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:41738758G>A	ENST00000318579.4	-	1	564	c.145C>T	c.(145-147)Cca>Tca	p.P49S	MEOX1_ENST00000549132.1_Silent_p.N19N|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000329168.3_Missense_Mutation_p.P49S	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	49						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		AGGAAGTCTGGTTTCTGGTGG	0.652000													10	37					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224900	26224900	+	Silent	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:26224900C>A	ENST00000335473.7	+	15	3194	c.2944C>A	c.(2944-2946)Cgg>Agg	p.R982R	MYO18B_ENST00000536101.1_Silent_p.R982R|MYO18B_ENST00000407587.2_Silent_p.R982R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	982	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTCTACCAGCGGACCTTTGT	0.607000													16	33					6.31663e-08	6.75562e-08	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139380153	139380153	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr8:139380153C>A	ENST00000395297.1	-	2	244	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	25								p.R25T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACTTACCCTCTCTGAAAGAG	0.388000										HNSCC(54;0.14)			8	84					0.00307968	0.0031831	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12337332	12337332	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:12337332C>T	ENST00000358136.3	+	19	3817	c.3687C>T	c.(3685-3687)aaC>aaT	p.N1229N	VPS13D_ENST00000356315.4_Silent_p.N1229N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1229					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACAAGATAACGTTAAAAACC	0.383000													14	147					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160225032	160225032	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:160225032C>G	ENST00000610273.1	+	5	422	c.251C>G	c.(250-252)cCt>cGt	p.P84R	PNLDC1_ENST00000392167.3_Missense_Mutation_p.P95R|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATCTCTTCCCTACAACGTTT	0.393000													26	101					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712320	22712320	+	RNA	SNP	T	T	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:22712320T>G	ENST00000390294.2	+	0	119																											GGGCCCAGTCTGTGCTGACTC	0.557000													32	97					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124419892	124419892	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:124419892G>A	ENST00000409039.3	+	78	13305	c.13280G>A	c.(13279-13281)cGg>cAg	p.R4427Q	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4427					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATACTTTCCGGACCCCCGTC	0.552000													18	65					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:50048903G>A	ENST00000371564.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647000													4	116					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124009069	124009069	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr10:124009069G>A	ENST00000369005.1	+	22	9011	c.8671G>A	c.(8671-8673)Gag>Aag	p.E2891K	TACC2_ENST00000358010.1_Missense_Mutation_p.E1037K|TACC2_ENST00000369001.1_Missense_Mutation_p.E518K|TACC2_ENST00000369000.1_Missense_Mutation_p.E514K|TACC2_ENST00000513429.1_Missense_Mutation_p.E1037K|TACC2_ENST00000360561.3_Missense_Mutation_p.E939K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2891K|TACC2_ENST00000369004.3_Missense_Mutation_p.E951K|TACC2_ENST00000368999.1_Missense_Mutation_p.E981K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2818K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2769K|TACC2_ENST00000260733.3_Missense_Mutation_p.E969K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2818K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2891						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCAATGCTGAGATTGCTCA	0.612000													9	21					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745835	140745835	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:140745835C>T	ENST00000518069.1	+	1	1938	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCCGTCGAAGACCATG	0.647000													39	157					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17086817	17086817	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:17086817C>A	ENST00000443236.1	-	16	2075	c.2044G>T	c.(2044-2046)Gcc>Tcc	p.A682S	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	635						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTCACCTGGGCAGGAGTCAGC	0.577000													3	20					0.115264	0.116102	1	1	0
FIBCD1	84929	broad.mit.edu	37	9	133787188	133787188	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:133787188G>A	ENST00000372338.4	-	5	1179	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	FIBCD1_ENST00000372337.2_Missense_Mutation_p.H155Y|FIBCD1_ENST00000448616.1_Missense_Mutation_p.H313Y|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H155Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	313	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTAGCCAGTGCTCCCCGGTG	0.657000													6	4					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418821	55418821	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:55418821G>T	ENST00000312422.2	+	1	442	c.442G>T	c.(442-444)Gta>Tta	p.V148L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGGGACGTGGGTAGGTGGGTT	0.433000													53	160					1.39193e-11	1.51797e-11	1	1	0
OPALIN	93377	broad.mit.edu	37	10	98111144	98111144	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr10:98111144C>T	ENST00000419479.1	-	4	540	c.33G>A	c.(31-33)ggG>ggA	p.G11G	OPALIN_ENST00000393870.2_Intron|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000536387.1_Silent_p.G11G|OPALIN_ENST00000371172.3_Silent_p.G21G	NM_001040103.1|NM_001284323.1|NM_001284324.1	NP_001035192.1|NP_001271252.1|NP_001271253.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	21						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCGTTTCTTTCCCACCTGTGA	0.318000													8	48					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243756	51243756	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:51243756C>G	ENST00000245441.5	-	7	767	c.577G>C	c.(577-579)Gat>Cat	p.D193H	NIN_ENST00000382043.4_Missense_Mutation_p.D193H|NIN_ENST00000453196.1_Missense_Mutation_p.D193H|NIN_ENST00000324330.9_Missense_Mutation_p.D193H|NIN_ENST00000389868.3_Missense_Mutation_p.D193H|NIN_ENST00000530997.2_Missense_Mutation_p.D193H|NIN_ENST00000382041.3_Missense_Mutation_p.D193H	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	193	EF-hand 3.				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)					ATCCCCAAATCTTCACAAACT	0.488000			T	PDGFRB	MPD								11	55					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718395	73718395	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:73718395C>T	ENST00000264448.6	+	10	9417	c.9306C>T	c.(9304-9306)acC>acT	p.T3102T	ALMS1_ENST00000409009.1_Silent_p.T3060T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3102					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATTATTGACCAGTAAACCTG	0.403000													21	63					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595443	129595443	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:129595443G>T	ENST00000373464.4	+	3	919	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S	ZBTB43_ENST00000373457.1_Missense_Mutation_p.A219S|ZBTB43_ENST00000449886.1_Missense_Mutation_p.A219S	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGGCGCCAGCGACAG	0.617000													3	17					1	1	1	1	0
XPC	7508	broad.mit.edu	37	3	14220117	14220117	+	Translation_Start_Site	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:14220117G>C	ENST00000285021.7	-	0	166				LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCCGGCCGCGATGCGCTAGA	0.697000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	157					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148815350	148815350	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:148815350C>G	ENST00000378061.2	-	2	241	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	37	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTCTTCATCTCTTGCTTATAC	0.433000													7	138					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148863310	148863310	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:148863310G>A	ENST00000475153.1	+	3	748	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E166K|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	161	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGAAAAATTAGAAGAATGGCA	0.408000													22	50					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270324	53270324	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:53270324G>C	ENST00000338230.3	-	3	952	c.685C>G	c.(685-687)Cag>Gag	p.Q229E		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GATGATACCTGACTGAAGGAC	0.418000													71	123					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57786024	57786024	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:57786024C>T	ENST00000309042.7	+	3	1284	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	324					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TAGACATATGCGTACTCATTC	0.328000													13	43					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273884	159273884	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:159273884G>A	ENST00000368115.1	+	4	342	c.243G>A	c.(241-243)gtG>gtA	p.V81V	FCER1A_ENST00000368114.1_Silent_p.V48V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	81	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAATATTGTGAATGCCAAAT	0.398000													17	46					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77612446	77612446	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:77612446C>G	ENST00000461745.1	+	11	2548	c.1648C>G	c.(1648-1650)Ctt>Gtt	p.L550V	ROBO2_ENST00000332191.8_Missense_Mutation_p.L550V|ROBO2_ENST00000487694.3_Missense_Mutation_p.L566V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	550	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCTGGAACCCTTCCAGCAAG	0.473000													16	41					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854819	89854819	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:89854819G>C	ENST00000287908.3	+	2	816	c.423G>C	c.(421-423)ttG>ttC	p.L141F	STEAP2_ENST00000394632.1_Missense_Mutation_p.L141F|STEAP2_ENST00000394622.2_Missense_Mutation_p.L141F|STEAP2_ENST00000394621.2_Missense_Mutation_p.L141F|STEAP2_ENST00000394629.2_Missense_Mutation_p.L141F|STEAP2_ENST00000402625.2_Missense_Mutation_p.L141F|STEAP2_ENST00000394626.1_Missense_Mutation_p.L141F	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	141					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAGATTCTTTGATTGTCAAAG	0.378000													37	89					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201983043	201983043	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:201983043C>G	ENST00000359651.3	+	7	4084	c.892C>G	c.(892-894)Cgg>Ggg	p.R298G	ELF3_ENST00000367284.5_Missense_Mutation_p.R298G|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R298G			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	298					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTGGGAGAATCGGCATGAAGG	0.592000													11	11					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236881251	236881251	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:236881251C>A	ENST00000366578.4	+	2	386	c.220C>A	c.(220-222)Ctg>Atg	p.L74M	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.L74M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	74	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TAAGCTCATGCTGCTTTTGGA	0.443000													4	16					0.00909568	0.00926288	1	1	0
RNF157	114804	broad.mit.edu	37	17	74150388	74150388	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:74150388C>T	ENST00000269391.6	-	17	1918	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	RNF157_ENST00000319945.6_Missense_Mutation_p.E574K|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000592748.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	596			E -> V (in dbSNP:rs59053255).				zinc ion binding	p.E1199K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GATCCATCCTCTTCCTCTATA	0.423000													34	82					0	0	1	0	0
LYPD6	130574	broad.mit.edu	37	2	150325162	150325162	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:150325162C>T	ENST00000334166.4	+	4	478	c.221C>T	c.(220-222)aCc>aTc	p.T74I	LYPD6_ENST00000409381.1_Missense_Mutation_p.T74I	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	74	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TTGACAGAGACCAGATACTGC	0.433000													29	71					0	0	1	0	0
EXOSC5	56915	broad.mit.edu	37	19	41895711	41895711	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:41895711C>T	ENST00000221233.4	-	4	634	c.484G>A	c.(484-486)Gat>Aat	p.D162N	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.D124N	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	162					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGGGTCCCATCAGAGTCCAGG	0.617000													26	89					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78515755	78515755	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:78515755C>T	ENST00000397909.2	+	16	3958	c.3785C>T	c.(3784-3786)tCt>tTt	p.S1262F	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1262F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1262F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1262	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATCTGCCTCTGCACCTAAT	0.463000										HNSCC(70;0.22)			10	49					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39053712	39053712	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:39053712C>T	ENST00000373256.4	+	13	1298	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	419					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R419C(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GAGCTGGGAGCGCTGGCGGCT	0.572000													76	104					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533389	3533389	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:3533389G>A	ENST00000407558.4	+	6	667	c.364G>A	c.(364-366)Gat>Aat	p.D122N	NAA60_ENST00000577013.1_Intron|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.D122N|NAA60_ENST00000576916.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000414063.2_Missense_Mutation_p.D122N|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.D129N|NAA60_ENST00000360862.5_Missense_Mutation_p.D57N|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.D122N|NAA60_ENST00000608993.1_Missense_Mutation_p.D57N|NAA60_ENST00000573580.1_Missense_Mutation_p.D57N|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000608722.1_Missense_Mutation_p.D122N|NAA60_ENST00000575076.1_Missense_Mutation_p.D122N			Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	122	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						AAGTTTAAAGGATCACATATC	0.473000													3	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	G	rs67389650		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:7577127C>G	ENST00000420246.2	-	8	943	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	TP53_ENST00000445888.2_Missense_Mutation_p.E271Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271Q|TP53_ENST00000269305.4_Missense_Mutation_p.E271Q|TP53_ENST00000455263.2_Missense_Mutation_p.E271Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537000		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	18					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423687	47423687	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr21:47423687C>T	ENST00000361866.3	+	35	2961	c.2847C>T	c.(2845-2847)ggC>ggT	p.G949G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	949	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACTCGCAGGGCGCCACGCCCG	0.657000													6	17					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117564	108117564	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:108117564C>G	ENST00000273353.3	-	36	5169	c.5113G>C	c.(5113-5115)Gag>Cag	p.E1705Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1705						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTGTCTGCTCTTGCAGGGAC	0.527000													61	145					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883144	228883144	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:228883144G>A	ENST00000392056.3	-	7	2472	c.2426C>T	c.(2425-2427)aCg>aTg	p.T809M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T809M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	809						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACTGCAGCGTGGGGTTCTT	0.453000													29	98					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235940598	235940598	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:235940598G>A	ENST00000389794.3	-	17	5399	c.5225C>T	c.(5224-5226)tCa>tTa	p.S1742L	LYST_ENST00000389793.2_Missense_Mutation_p.S1742L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1742					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAAACAACTGAAAGACTTTC	0.333000													12	47					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650756	67650756	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:67650756C>T	ENST00000264010.4	+	5	1505	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	CTCF_ENST00000401394.1_Missense_Mutation_p.S26F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	354					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.S354F(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453000													91	99					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88337977	88337977	+	Missense_Mutation	SNP	G	G	A	rs148343362		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:88337977G>A	ENST00000418177.2	-	5	1670	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	GRM5_ENST00000393297.1_Missense_Mutation_p.R435W|GRM5_ENST00000305432.5_Missense_Mutation_p.R435W|GRM5_ENST00000455756.2_Missense_Mutation_p.R435W|GRM5_ENST00000305447.4_Missense_Mutation_p.R435W			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	435					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R435W(3)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAAAGTTTCCGTCCATCAATT	0.483000													3	30					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066704	62066704	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:62066704C>G	ENST00000404929.1	-	3	1446	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H	FAM161A_ENST00000405894.3_Missense_Mutation_p.D479H	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	479					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTTCATCTGCTTCGATG	0.388000													7	54					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77762337	77762337	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:77762337C>G	ENST00000354212.4	-	18	3325	c.3072G>C	c.(3070-3072)caG>caC	p.Q1024H	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1024H|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1010H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1024	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCATGGGACTCTGCTTCTCTG	0.627000													16	155					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180627216	180627216	+	Translation_Start_Site	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:180627216C>T	ENST00000393319.3	-	0	714				TRIM7_ENST00000274773.7_Intron|TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000422067.2_Intron|CTC-338M12.6_ENST00000511517.1_RNA	NM_203297.1	NP_976042.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACCTACGCACGCAGTGCGTG	0.552000													3	8					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120973	119120973	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:119120973C>A	ENST00000264245.4	+	10	1906	c.1374C>A	c.(1372-1374)aaC>aaA	p.N458K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	458					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACACTTCGAACGACAGCCCTA	0.597000													28	59					6.32553e-13	6.92558e-13	1	1	0
ROR1	4919	broad.mit.edu	37	1	64643749	64643749	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:64643749C>G	ENST00000371079.1	+	9	2400	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	ROR1_ENST00000545203.1_Missense_Mutation_p.I126M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	675	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTCAGATATCTGGTCCTTTG	0.473000													22	47					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72120363	72120363	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:72120363C>T	ENST00000356056.5	-	41	7517	c.7045G>A	c.(7045-7047)Gag>Aag	p.E2349K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E2330K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2420K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2349K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2349	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATGTTAGCTCCTCCCTGTAA	0.433000													8	37					0	0	1	0	0
GTF3A	2971	broad.mit.edu	37	13	28009278	28009278	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:28009278C>T	ENST00000381140.4	+	8	1076	c.882C>T	c.(880-882)ctC>ctT	p.L294L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	294					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		AGCAAAGTCTCACTAGGCATG	0.343000													7	48					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353517	113353517	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:113353517C>T	ENST00000458497.1	+	11	3093	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	ALPK1_ENST00000504176.2_Silent_p.S860S|ALPK1_ENST00000177648.9_Silent_p.S938S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	938	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTGCATTTTCCAGTGGTTCTT	0.507000													11	48					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	264997	264997	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:264997G>C	ENST00000419098.1	-	4	1659	c.1649C>G	c.(1648-1650)aCa>aGa	p.T550R		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AGTATGAATTGTCTTATATTT	0.353000													3	5					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515801	149515801	+	RNA	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:149515801G>A	ENST00000378016.2	+	0	11702							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCCCGCTCGCCCTGCATGG	0.687000													3	10					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445575	150445575	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:150445575G>A	ENST00000401000.4	+	10	4138	c.4073G>A	c.(4072-4074)gGa>gAa	p.G1358E	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.G1384E			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1384	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCACCCCATGGAGGAGGAGGT	0.642000													21	32					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1																						CCCTATCTGCGCACCCGGAGG	0.612000													3	7					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr10:42832122C>T	ENST00000609841.1	-	0	1781					NR_024380.1																						CAGTAAAAGGCTTTGCCACAT	0.348000													5	12					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264399	48264399	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:48264399G>T	ENST00000225964.5	-	47	3626	c.3508C>A	c.(3508-3510)Cgc>Agc	p.R1170S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1170	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGTGCGACCGCGAGGA	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	15					0.184627	0.185296	1	1	0
GNPDA1	10007	broad.mit.edu	37	5	141381630	141381630	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:141381630C>A	ENST00000508177.1	-	6	1592	c.834G>T	c.(832-834)gaG>gaT	p.E278D	GNPDA1_ENST00000311337.6_Missense_Mutation_p.E278D|GNPDA1_ENST00000503794.1_Missense_Mutation_p.E278D|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000458112.2_Missense_Mutation_p.E244D|GNPDA1_ENST00000500692.2_Missense_Mutation_p.E278D|GNPDA1_ENST00000542860.1_Missense_Mutation_p.E201D			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	278					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGCTTTTCTCAGTTTCTT	0.383000													8	21					3.07112e-06	3.27192e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)			13	27					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32783174	32783174	+	Silent	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:32783174G>C	ENST00000380250.3	+	32	4699	c.4203G>C	c.(4201-4203)ctG>ctC	p.L1401L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCACGGGCTGAGAGGAAATG	0.582000													17	61					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412965	49412965	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:49412965A>C	ENST00000418115.1	-	2	442	c.58T>G	c.(58-60)Tgc>Ggc	p.C20G	RHOA_ENST00000454011.2_Missense_Mutation_p.C20G|RHOA_ENST00000422781.1_Missense_Mutation_p.C20G	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	20					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ATGAGCAAGCATGTCTTTCCA	0.473000													22	36					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130883529	130883529	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:130883529C>T	ENST00000338961.6	-	7	1773	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	PTGES2_ENST00000277462.5_Silent_p.V152V	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	343	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						GCCCCTCCATCACACGCAGCA	0.627000													4	8					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52981619	52981619	+	Missense_Mutation	SNP	G	G	A	rs140024110	byFrequency	TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:52981619G>A	ENST00000293745.2	-	7	1191	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	KRT72_ENST00000398066.3_Missense_Mutation_p.T181M|KRT72_ENST00000537672.2_Missense_Mutation_p.T369M|KRT72_ENST00000354310.4_Missense_Mutation_p.T327M	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	369	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGCGATGGCCGTCTCCAGATC	0.612000													9	29					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328856	160328856	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:160328856G>C	ENST00000252660.4	+	1	883	c.869G>C	c.(868-870)aGa>aCa	p.R290T		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	290					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		AAGAAGAAGAGATTCAAGGAG	0.443000													20	70					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170617	36170617	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:36170617G>C	ENST00000335119.2	+	1	1229	c.1118G>C	c.(1117-1119)tGt>tCt	p.C373S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	373					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ATGGTGACCTGTGGGGGGACA	0.577000													7	99					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549088	23549088	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:23549088C>T	ENST00000262710.1	-	6	1957	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	ACIN1_ENST00000457657.1_Missense_Mutation_p.E504K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E544K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E486K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	544					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGACATTCTTCAGTGATTCCT	0.468000													29	98					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70983667	70983667	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:70983667G>A	ENST00000322954.6	-	4	522	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	UACA_ENST00000560441.1_Missense_Mutation_p.H100Y|UACA_ENST00000379983.2_Missense_Mutation_p.H100Y|UACA_ENST00000539319.1_Missense_Mutation_p.H113Y	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	113						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CACAATGCATGTCCATACTTA	0.303000													15	52					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47197203	47197203	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:47197203G>A	ENST00000433867.1	-	11	1982	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	PRKD2_ENST00000291281.4_Missense_Mutation_p.T502I|PRKD2_ENST00000601806.1_Missense_Mutation_p.T345I|PRKD2_ENST00000600194.1_Missense_Mutation_p.T345I|PRKD2_ENST00000595515.1_Missense_Mutation_p.T502I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	502	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGGATGGCTGTCTCCCAGCC	0.692000													7	30					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160268894	160268894	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:160268894C>G	ENST00000241704.7	-	18	2057	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	COPA_ENST00000368069.3_Missense_Mutation_p.E619Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	610					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCATACCTCATCATATTTT	0.443000													6	80					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239517	21239517	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:21239517C>T	ENST00000233242.1	-	21	3253	c.3126G>A	c.(3124-3126)gcG>gcA	p.A1042A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1042					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTCTGCTTCGCACCTGGAC	0.478000													9	29					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73366591	73366591	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:73366591G>A	ENST00000326291.6	+	3	597	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	87						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GAAGATTGAAGAATTGGAGGA	0.303000													4	17					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36695002	36695002	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:36695002G>A	ENST00000216181.5	-	24	3293	c.3063C>T	c.(3061-3063)ctC>ctT	p.L1021L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1021					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTTGTTCTTGAGCTTGGCGA	0.567000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				17	66					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367216	367216	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:367216G>C	ENST00000240499.7	+	4	1139	c.990G>C	c.(988-990)aaG>aaC	p.K330N	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	330					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTAAACATAAGAGAATTCATA	0.383000													25	67					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222913	45222913	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:45222913G>A	ENST00000242249.4	+	3	387	c.349G>A	c.(349-351)Gag>Aag	p.E117K	RAMP3_ENST00000481345.1_Missense_Mutation_p.E117K|RAMP3_ENST00000496212.1_Missense_Mutation_p.E117K	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	117					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CCCCCCAGACGAGGTTCTCAT	0.632000													10	134					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11156993	11156993	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:11156993G>A	ENST00000337414.4	-	13	3787	c.2915C>T	c.(2914-2916)aCg>aTg	p.T972M	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T769M|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T769M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	972					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCAGACCAGCGTCTCGGGCAG	0.726000													7	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594422	179594422	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:179594422C>T	ENST00000589042.1	-	63	18782	c.18558G>A	c.(18556-18558)acG>acA	p.T6186T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T4942T|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T5869T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5869	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T4942T(1)		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)			TGCAGCTCGCCGTGCCTGCGT	0.463000													29	91					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449172	89449172	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:89449172C>T	ENST00000399794.2	-	3	1053	c.338G>A	c.(337-339)aGa>aAa	p.R113K	RBMXL1_ENST00000321792.5_Missense_Mutation_p.R113K|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	113							nucleotide binding|RNA binding										ACTTCCTCCTCTTCCAGCTCC	0.507000													31	75					0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110837688	110837688	+	Missense_Mutation	SNP	G	G	C	rs149109162		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:110837688G>C	ENST00000296632.3	-	4	388	c.254C>G	c.(253-255)tCt>tGt	p.S85C	STARD4_ENST00000502322.1_Missense_Mutation_p.S85C|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000509887.1_Intron	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	85	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		AATATCCAAAGAAGTCATCAA	0.428000													30	105					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12030426	12030426	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr18:12030426C>T	ENST00000269159.3	+	8	1078	c.836C>T	c.(835-837)aCg>aTg	p.T279M	IMPA2_ENST00000589238.1_Missense_Mutation_p.T90M|IMPA2_ENST00000588927.1_Missense_Mutation_p.T90M	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	279					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCCTTACAGACGATTAACTAT	0.627000													4	34					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004335	102004335	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:102004335G>A	ENST00000372735.1	+	4	997	c.412G>A	c.(412-414)Gat>Aat	p.D138N	BHLHB9_ENST00000448867.1_Missense_Mutation_p.D138N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.D138N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D138N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D138N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	138						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACTAAGAATGATAAACCTGA	0.537000													42	40					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138523301	138523301	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:138523301C>T	ENST00000371763.1	-	3	348	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	32					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GTCTGAGAGCCGAAGTTCTTC	0.418000													34	23					0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	643744	643744	+	Splice_Site	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:643744G>C	ENST00000308278.8	+	4	644		c.e4-1		FAM57A_ENST00000301324.8_Intron|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A							integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		GTCATCCGCAGAGGCTCCGGG	0.532000													15	29					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472537	25472537	+	Missense_Mutation	SNP	C	C	T	rs139790831		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:25472537C>T	ENST00000380746.4	-	2	174	c.61G>A	c.(61-63)Gag>Aag	p.E21K	DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000264709.3_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	61					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTATCACACTCGTCTTTCAGG	0.498000			"""Mis, F, N, S"""		AML								4	34					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	90					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46805773	46805773	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:46805773G>A	ENST00000262738.3	-	8	4937	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1646	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCGAGCAGCGCAGCCTGGCA	0.627000													4	134					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592880	156592880	+	Silent	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:156592880G>C	ENST00000302938.4	-	1	395	c.300C>G	c.(298-300)gtC>gtG	p.V100V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	100						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCCCATCTGACATGCTGTT	0.557000													12	45					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763520	92763520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr7:92763520G>A	ENST00000318238.4	-	5	2981	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R589*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R589*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	589								p.R589*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCCATCGTTGATAAATA	0.358000													26	86					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138163381	138163381	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:138163381G>A	ENST00000302763.7	+	7	1126	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D243N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D346N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	346	Interaction with alpha-actinin.			LQDLL -> CRTCV (in Ref. 3; AAA86430).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCCTGCAGGACCTGCTTTC	0.498000													3	34					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114383971	114383971	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:114383971G>A	ENST00000312719.5	-	4	1227	c.39C>T	c.(37-39)ctC>ctT	p.L13L	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L13L			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	13					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCAGCACCAGGAGCTTCTGTC	0.547000													26	90					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51561852	51561852	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:51561852C>G	ENST00000595793.1	-	4	630	c.588G>C	c.(586-588)aaG>aaC	p.K196N	KLK13_ENST00000595547.1_Missense_Mutation_p.K123N|KLK13_ENST00000335422.3_Missense_Mutation_p.K44N	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	196	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGTCAGTGATCTTTCCTGGGT	0.517000													9	118					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100273982	100273982	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:100273982C>T	ENST00000338687.7	-	12	2036	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	TRMT2B_ENST00000545398.1_Missense_Mutation_p.E456K|TRMT2B_ENST00000372935.1_Missense_Mutation_p.E456K|TRMT2B_ENST00000372939.1_Missense_Mutation_p.E411K|TRMT2B_ENST00000372931.5_Missense_Mutation_p.E456K|TRMT2B_ENST00000372936.3_Missense_Mutation_p.E456K			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	456							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTAGTGGATTCACCATGGAGC	0.383000													4	92					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080517	178080517	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:178080517G>C	ENST00000411529.2	+	3	220	c.169G>C	c.(169-171)Ggt>Cgt	p.G57R	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G79R|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G79R	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	79	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						CAGGGGCTTTGGTTTTGTGAC	0.448000													17	69					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90396077	90396077	+	RNA	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:90396077C>G	ENST00000354530.2	+	0	453					NR_027917.1																						tccaaggtcacagaggtgcat	0.483000													3	4					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95768685	95768685	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:95768685G>A	ENST00000311106.3	-	1	299	c.62C>T	c.(61-63)gCa>gTa	p.A21V	CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	21					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGTTCAGTGCACACCAAGC	0.577000													42	150					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769769	112769769	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:112769769G>A	ENST00000390666.3	-	1	959	c.768C>T	c.(766-768)gaC>gaT	p.D256D	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	256	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GCCGGTTGACGTCGGGCTGCA	0.612000													4	37					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855394	4855394	+	Silent	SNP	T	T	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:4855394T>C	ENST00000252318.2	+	6	1480	c.1143T>C	c.(1141-1143)taT>taC	p.Y381Y		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	381	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTCATCTATGGAGGAGAGA	0.507000													12	66					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688638	26688638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:26688638C>T	ENST00000436292.1	-	6	1292	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000349618.3_Intron|ZNF683_ENST00000403843.1_Nonsense_Mutation_p.W391*			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAAGCTTTTCCAGTGATTTCT	0.493000													4	14					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88033734	88033734	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:88033734G>A	ENST00000227266.5	-	5	835	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	241					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGATACCATGAACATTTCTC	0.358000													8	57					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													5	183					0.00116845	0.00121676	1	1	0
FBN1	2200	broad.mit.edu	37	15	48725131	48725131	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:48725131G>T	ENST00000316623.5	-	55	7126	c.6671C>A	c.(6670-6672)aCt>aAt	p.T2224N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2224	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACCCATAAGTGTTCACACA	0.458000													14	39					0.00185496	0.00192443	1	1	0
G6PD	2539	broad.mit.edu	37	X	153761169	153761169	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:153761169C>G	ENST00000393562.2	-	9	1512	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	G6PD_ENST00000393564.2_Missense_Mutation_p.E347Q|G6PD_ENST00000369620.2_Missense_Mutation_p.E393Q	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	347					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCACCTCTCATTCTCCACA	0.637000													7	93					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527000	3527000	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:3527000C>G	ENST00000441788.2	+	6	646	c.410C>G	c.(409-411)tCc>tGc	p.S137C	FZR1_ENST00000395095.3_Missense_Mutation_p.S137C|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	137					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAAGCGCTCCAGCCCCGAT	0.662000													8	63					0	0	1	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165520	23165520	+	RNA	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:23165520G>A	ENST00000390317.2	+	0	253																											CTCCGCGTCCGGGTCTCCTGG	0.592000													14	464					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86198373	86198373	+	Silent	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr10:86198373G>C	ENST00000224756.8	+	6	2159	c.1974G>C	c.(1972-1974)gtG>gtC	p.V658V	CCSER2_ENST00000372088.2_Silent_p.V658V|CCSER2_ENST00000543283.1_Silent_p.V85V|CCSER2_ENST00000494144.1_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2			coiled-coil serine-rich protein 2																		AAAATACAGTGATACTGGATG	0.438000													17	47					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844048	15844048	+	Missense_Mutation	SNP	G	G	A	rs111404182		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:15844048G>A	ENST00000452625.2	-	17	2113	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	MYH11_ENST00000576790.2_Missense_Mutation_p.R669C|MYH11_ENST00000396324.3_Missense_Mutation_p.R676C|MYH11_ENST00000300036.5_Missense_Mutation_p.R669C	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	669	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTGGTGTTGCGTAGCGTGGTC	0.647000			T	CBFB	AML								22	55					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89198813	89198813	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr8:89198813G>A	ENST00000286614.6	-	3	577	c.296C>T	c.(295-297)cCc>cTc	p.P99L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	99					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACCGCATCGGGGCTTCTTCAT	0.368000													8	110					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44569722	44569722	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:44569722T>A	ENST00000372409.3	+	7	913	c.549T>A	c.(547-549)aaT>aaA	p.N183K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	183						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCCAGACCAATGCTGTCATCA	0.612000													9	79					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72371192	72371192	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:72371192G>A	ENST00000001146.2	-	2	558	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	119					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.R119G(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGGGTGCTGCGAGGCCACTCG	0.622000													10	40					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636362	42636362	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:42636362G>A	ENST00000315323.3	+	1	1438	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	436					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCCGGCTTCGTGTCGCTCTT	0.627000													5	107					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053760	95053760	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:95053760C>T	ENST00000329597.7	+	3	271	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21C	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCCTTCACCGCCACCACCC	0.582000													15	71					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748128	43748128	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:43748128G>C	ENST00000263801.3	-	12	2915	c.2663C>G	c.(2662-2664)tCt>tGt	p.S888C	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S893C|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S893C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S893C|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	888					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCATGGGCAGAGGGCTTCCC	0.428000								Other conserved DNA damage response genes					12	55					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58813743	58813743	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr14:58813743T>G	ENST00000355431.3	+	14	1453	c.1080T>G	c.(1078-1080)gaT>gaG	p.D360E	ARID4A_ENST00000395168.3_Missense_Mutation_p.D360E|ARID4A_ENST00000431317.2_Missense_Mutation_p.D360E|ARID4A_ENST00000348476.3_Missense_Mutation_p.D360E	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	360	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCAGATTGATAGTGGTGCTG	0.254000													9	32					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158654	34158654	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:34158654C>T	ENST00000373381.4	-	25	4104	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E183K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1270	CUB 8.					integral to membrane|plasma membrane	protein binding	p.E1270K(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCCACACTCGGCTGAAAGA	0.557000													22	73					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073608	48073608	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:48073608C>T	ENST00000264316.4	-	14	1526	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	TXK_ENST00000507351.1_Missense_Mutation_p.E136K	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	481	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTGAAGCCTTCAGAAATAGCT	0.393000													73	85					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4056646	4056646	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:4056646G>C	ENST00000337659.6	+	12	2658	c.2558G>C	c.(2557-2559)aGa>aCa	p.R853T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R839T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	853	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTTGTCAGTAGATTTTATCGT	0.378000													9	99					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19431768	19431768	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:19431768G>C	ENST00000262815.8	+	1	139	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	MAU2_ENST00000392313.6_Missense_Mutation_p.E34Q			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	34	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCTTCGCTGAGCACTTCCG	0.721000													4	9					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048808	50048808	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:50048808C>T	ENST00000371564.3	-	9	2737	c.2518G>A	c.(2518-2520)Ggc>Agc	p.G840S	NFATC2_ENST00000609507.1_Missense_Mutation_p.G621S|NFATC2_ENST00000396009.3_Missense_Mutation_p.G840S|NFATC2_ENST00000414705.1_Missense_Mutation_p.G820S|NFATC2_ENST00000609943.1_Missense_Mutation_p.G820S|NFATC2_ENST00000610033.1_Missense_Mutation_p.G621S	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	840					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTGGTGGTGCCTGGTGCGAAA	0.617000													15	110					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80085725	80085725	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:80085725G>A	ENST00000389641.4	-	17	2445	c.2409C>T	c.(2407-2409)tcC>tcT	p.S803S	CCDC57_ENST00000392347.1_Silent_p.S803S|CCDC57_ENST00000392346.2_Silent_p.S160S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	803										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTGGCTTTGGGGACCTGTCTT	0.567000													5	58					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073661	48073661	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr4:48073661C>A	ENST00000264316.4	-	14	1473	c.1388G>T	c.(1387-1389)gGa>gTa	p.G463V	TXK_ENST00000507351.1_Missense_Mutation_p.G118V	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	463	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGCATTTTTCCTTCTGTAAA	0.383000													65	85					2.73361e-28	3.02884e-28	1	1	0
PRRT2	112476	broad.mit.edu	37	16	29825697	29825697	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:29825697G>A	ENST00000358758.7	+	3	1206	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PRRT2_ENST00000300797.6_3'UTR|PRRT2_ENST00000567659.1_Missense_Mutation_p.R308H|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	308					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GGGGCCCAGCGTCTGGGCCGG	0.667000													16	83					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805343	115805343	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:115805343A>C	ENST00000374227.3	-	4	1582	c.1555T>G	c.(1555-1557)Tgt>Ggt	p.C519G	ZFP37_ENST00000555206.1_Missense_Mutation_p.C520G|ZFP37_ENST00000553380.1_Missense_Mutation_p.C534G	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	519						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATTGATTACATTCAAAGGGA	0.383000													34	15					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110318126	110318126	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:110318126G>C	ENST00000318348.4	-	1	167	c.54C>G	c.(52-54)atC>atG	p.I18M	GLTP_ENST00000544393.1_Missense_Mutation_p.I18M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	18						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCCCGGTCTCGATCTGCTTGT	0.731000													8	20					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201680225	201680225	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:201680225G>A	ENST00000409600.1	+	3	681	c.226G>A	c.(226-228)Gct>Act	p.A76T	BZW1_ENST00000452790.2_Missense_Mutation_p.A108T|BZW1_ENST00000409226.1_Missense_Mutation_p.A80T	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CATTCTGGTGGCTGGTGGAAT	0.393000													7	28					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778485	40778485	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr21:40778485C>T	ENST00000358268.2	-	10	1864	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Missense_Mutation_p.G446R|LCA5L_ENST00000380671.2_Missense_Mutation_p.G446R|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	446										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTTGTCTTCCAGTATTCTCC	0.313000													4	85					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445578	150445578	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:150445578G>T	ENST00000401000.4	+	10	4141	c.4076G>T	c.(4075-4077)gGa>gTa	p.G1359V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.G1385V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1385	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCCATGGAGGAGGAGGTGGG	0.642000													22	31					1.50039e-11	1.62984e-11	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	59					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998854	173998854	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:173998854G>A	ENST00000457714.1	+	7	2662	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	NLGN1_ENST00000361589.4_Missense_Mutation_p.E745K|NLGN1_ENST00000401917.3_Missense_Mutation_p.E785K|NLGN1_ENST00000545397.1_Missense_Mutation_p.E745K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	762					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCATGAATGTGAGTCCATTCA	0.483000													14	38					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186088378	186088378	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:186088378C>T	ENST00000271588.4	+	78	12133	c.11904C>T	c.(11902-11904)gtC>gtT	p.V3968V	HMCN1_ENST00000367492.2_Silent_p.V3968V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3968	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACTTGTGTCGCTAGGAATG	0.413000													17	56					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660610	141660610	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:141660610C>T	ENST00000389484.3	-	23	4616	c.3645G>A	c.(3643-3645)gtG>gtA	p.V1215V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1215					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAATAATCCACAATTTCAC	0.433000										TSP Lung(27;0.18)			10	43					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56688516	56688516	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:56688516C>T	ENST00000357330.2	+	2	121	c.39C>T	c.(37-39)gtC>gtT	p.V13V	GALP_ENST00000440823.1_Silent_p.V13V|GALP_ENST00000590002.1_Silent_p.V13V	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	13					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCCTCCTCGTCCTCTTGCTGA	0.637000													5	23					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21068970	21068970	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:21068970G>T	ENST00000381545.3	+	16	2117	c.1898G>T	c.(1897-1899)aGa>aTa	p.R633I	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R633I|SLCO1B3_ENST00000553473.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	633					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATAGCTTTAAGATTCCCAGCA	0.294000													6	29					0.0215528	0.0218686	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10197129	10197129	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:10197129C>T	ENST00000377157.3	+	16	2555	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	UBE4B_ENST00000253251.8_Silent_p.G614G|UBE4B_ENST00000343090.6_Silent_p.G743G	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	743					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCTAGATGGCGATCAGCCTC	0.393000													14	68					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371520	240371520	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:240371520C>T	ENST00000319653.9	+	5	3638	c.3408C>T	c.(3406-3408)ccC>ccT	p.P1136P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1136	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGAGCGGGCA	0.716000													5	27					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442405	234442405	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:234442405C>G	ENST00000251722.6	-	11	1305	c.1188G>C	c.(1186-1188)caG>caC	p.Q396H	USP40_ENST00000427112.2_Missense_Mutation_p.Q396H|USP40_ENST00000450966.1_Missense_Mutation_p.Q408H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	396					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTAGAAATATCTGAGAATGGA	0.313000													7	13					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142078710	142078710	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:142078710G>A	ENST00000264951.4	-	30	3575	c.3458C>T	c.(3457-3459)aCa>aTa	p.T1153I	XRN1_ENST00000392981.2_Missense_Mutation_p.T1153I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1153					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AAACCTTATTGTTAACCCTCC	0.318000													10	29					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10147796	10147796	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:10147796C>T	ENST00000428126.2	-	6	658	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130H|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R163H			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	163	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CGACTTCTGGCGAGATAATCC	0.433000													54	200					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047958	9047958	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:9047958G>A	ENST00000397910.4	-	5	33876	c.33673C>T	c.(33673-33675)Cta>Tta	p.L11225L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11227	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAACAGTTAGATTTGAAAAC	0.488000													8	25					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784853	32784853	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:32784853G>C	ENST00000342743.5	+	2	1037	c.672G>C	c.(670-672)caG>caC	p.Q224H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	224						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATATCAATCAGATACAAGGCA	0.483000													9	72					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234858702	234858702	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:234858702C>G	ENST00000324695.4	+	9	1092	c.1052C>G	c.(1051-1053)tCt>tGt	p.S351C	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.S39C	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	351						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCCTGACATCTTCTGCCGTC	0.552000													4	26					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724732	112724732	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:112724732C>T	ENST00000314400.5	-	9	1546	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q	C3orf17_ENST00000393857.2_Missense_Mutation_p.R316Q|C3orf17_ENST00000383675.2_Missense_Mutation_p.R382Q	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	452						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CCTTTGTCTCCGTAAAAATTT	0.418000													9	28					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419993	130419993	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:130419993C>G	ENST00000370904.1	-	10	1010	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	IGSF1_ENST00000361420.3_Missense_Mutation_p.E43Q|IGSF1_ENST00000370900.1_Missense_Mutation_p.E43Q|IGSF1_ENST00000370901.4_Missense_Mutation_p.E43Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.E43Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.E34Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	43					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGTTGGACTCTATCCACAAC	0.502000													61	30					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390941	62390941	+	Missense_Mutation	SNP	C	C	T	rs149758348	byFrequency	TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:62390941C>T	ENST00000281156.4	-	9	1255	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	326				R -> S (in Ref. 5; AAH34043).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAAGCTAGAGCGGGTTGTGGC	0.468000													9	22					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12785963	12785963	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:12785963G>C	ENST00000361905.4	+	3	804	c.139G>C	c.(139-141)Gac>Cac	p.D47H	TEAD1_ENST00000361985.2_Missense_Mutation_p.D62H|TEAD1_ENST00000527636.1_Missense_Mutation_p.D62H|TEAD1_ENST00000334310.6_Missense_Mutation_p.D47H|TEAD1_ENST00000527575.1_Missense_Mutation_p.D62H	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	62					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CATCTTATCAGACGAAGGCAA	0.493000													11	34					0	0	1	0	0
LAMP2	3920	broad.mit.edu	37	X	119580227	119580227	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:119580227C>T	ENST00000371335.4	-	6	933	c.797G>A	c.(796-798)cGt>cAt	p.R266H	LAMP2_ENST00000540603.1_Missense_Mutation_p.R219H|LAMP2_ENST00000538785.1_Missense_Mutation_p.R155H|LAMP2_ENST00000200639.4_Missense_Mutation_p.R266H|LAMP2_ENST00000434600.2_Missense_Mutation_p.R266H	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	266	Second lumenal domain.			GSCRSHT -> AAAVSH (in Ref. 3).	platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGTGTGAGAACGGCAGCTGCC	0.398000													14	71					0	0	1	0	0
TSR3	115939	broad.mit.edu	37	16	1400137	1400137	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr16:1400137C>T	ENST00000007390.2	-	4	731	c.625G>A	c.(625-627)Ggc>Agc	p.G209S		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		TCCGGGCTGCCGCAGGCCGCG	0.617000													8	15					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602569	149602569	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:149602569C>T	ENST00000348628.6	-	17	2081	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Silent_p.A483A	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	472					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACGGAGGGCGCCCCAGATC	0.642000													12	42					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64404646	64404646	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr6:64404646C>G	ENST00000262043.3	+	6	3012	c.2672C>G	c.(2671-2673)tCa>tGa	p.S891*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S891*			Q92576	PHF3_HUMAN	PHD finger protein 3	891					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAAAAGCTTCAAAACCAGGT	0.299000													20	51					0	0	1	0	0
REXO2	25996	broad.mit.edu	37	11	114320629	114320629	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:114320629A>C	ENST00000265881.5	+	7	789	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000538791.1_Missense_Mutation_p.K126Q|REXO2_ENST00000539754.1_Missense_Mutation_p.K201Q|REXO2_ENST00000544507.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	216					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		TAACATCTTCAAGAAAAAAAT	0.353000													21	81					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16115836	16115836	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr12:16115836G>A	ENST00000428559.2	+	5	675	c.463G>A	c.(463-465)Gac>Aac	p.D155N	DERA_ENST00000526530.1_Missense_Mutation_p.D67N|DERA_ENST00000532964.1_Missense_Mutation_p.D155N	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	155					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TACAGAAATCGACGTGGTAAT	0.463000													3	7					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77728041	77728041	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:77728041C>T	ENST00000353172.5	-	2	410	c.366G>A	c.(364-366)ctG>ctA	p.L122L	NDUFC2-KCTD14_ENST00000528251.1_3'UTR|KCTD14_ENST00000533144.1_Silent_p.L92L	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	122	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCATGTCCTCCAGCAGCTTGA	0.567000													22	28					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43984830	43984830	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr21:43984830C>T	ENST00000352133.2	+	14	2130	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SLC37A1_ENST00000398341.3_Missense_Mutation_p.A383V			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	383					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGGATCCTGGCAGGTGTGATC	0.672000													4	61					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14520254	14520254	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:14520254G>A	ENST00000242776.4	-	9	1081	c.980C>T	c.(979-981)tCa>tTa	p.S327L		NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	327	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTGATAGCGTGACAGGCTGGG	0.612000													33	59					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52387259	52387259	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:52387259C>T	ENST00000420323.2	+	19	3429	c.3168C>T	c.(3166-3168)aaC>aaT	p.N1056N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1056	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGAGAAGAACGTGGTTGAAG	0.587000													7	14					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158622525	158622525	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:158622525C>T	ENST00000263640.3	-	8	1403	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ACVR1_ENST00000410057.2_Missense_Mutation_p.G325E|ACVR1_ENST00000409283.2_Missense_Mutation_p.G325E|ACVR1_ENST00000434821.1_Missense_Mutation_p.G325E	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	325	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCCTTGGGTCCCAAATATCTC	0.413000													4	70					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737211	157737211	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:157737211C>T	ENST00000361516.3	-	6	1020	c.972G>A	c.(970-972)ctG>ctA	p.L324L	FCRL2_ENST00000469986.1_Silent_p.L71L|FCRL2_ENST00000392274.3_Silent_p.L324L|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	324	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGAGCCTCTCAGGGCCTCAC	0.597000													26	51					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149581908	149581908	+	Splice_Site	SNP	A	A	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:149581908A>T	ENST00000230671.2	+	7	1229		c.e7-1		SLC6A7_ENST00000524041.1_Splice_Site	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7							integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCCCGGCACAGGTGTGGATT	0.557000													5	36					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43618615	43618615	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:43618615A>G	ENST00000292246.3	-	6	901	c.731T>C	c.(730-732)gTg>gCg	p.V244A	ANO10_ENST00000451430.2_Missense_Mutation_p.V133A|ANO10_ENST00000396091.3_Missense_Mutation_p.V178A|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.V244A	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	244					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCAAAGATCACGTACTTGTC	0.468000													6	56					0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104152999	104152999	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr9:104152999C>T	ENST00000374865.4	-	2	247	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	MRPL50_ENST00000539624.1_Missense_Mutation_p.E76K	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	76						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CCAAAAACTTCTTTAACGTAA	0.428000													9	73					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148846	170148846	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:170148846C>T	ENST00000328939.4	+	4	803	c.266C>T	c.(265-267)aCg>aTg	p.T89M	KCNIP1_ENST00000520740.1_Missense_Mutation_p.T61M|KCNIP1_ENST00000390656.4_Missense_Mutation_p.T89M|KCNIP1_ENST00000434108.1_Missense_Mutation_p.T114M|KCNIP1_ENST00000377360.4_Missense_Mutation_p.T98M|KCNIP1_ENST00000411494.1_Missense_Mutation_p.T100M	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	100	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.T100M(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGCCAGCACGTATGCCCAT	0.547000													18	77					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119451169	119451169	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:119451169G>C	ENST00000273390.5	+	9	1124	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		GAAAGAGAAAGAATATAGAAG	0.368000													6	36					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140048328	140048328	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:140048328T>A	ENST00000358337.5	+	4	749	c.512T>A	c.(511-513)aTc>aAc	p.I171N		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	171					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGAGTACATCGCAGACATG	0.542000													6	21					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661254	180661254	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr5:180661254C>T	ENST00000315073.5	+	6	2082	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Missense_Mutation_p.R458W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	458	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGCAGAGCGGCGGCAGGA	0.701000													7	44					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119195	25119195	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr22:25119195C>T	ENST00000332271.5	-	19	2702	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	PIWIL3_ENST00000527701.1_Silent_p.K644K|PIWIL3_ENST00000533313.1_Silent_p.K644K|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	762	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTATTCGTTTCTTCACCACAA	0.338000													14	35					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443689	150443689	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:150443689G>C	ENST00000401000.4	+	10	2252	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.K755N|RPRD2_ENST00000539519.1_Missense_Mutation_p.K729N			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	755	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCTTTCTAAGATCATTAGCC	0.522000													11	22					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48219462	48219462	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr3:48219462C>G	ENST00000302506.3	-	7	974	c.566G>C	c.(565-567)aGa>aCa	p.R189T	CDC25A_ENST00000351231.3_Missense_Mutation_p.R149T	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	189					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.R189I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACTGCTATCTCTTTCATTTGA	0.408000													35	63					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5692058	5692058	+	Silent	SNP	C	C	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:5692058C>T	ENST00000360614.3	-	18	3022	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	LONP1_ENST00000590729.1_Silent_p.L825L|LONP1_ENST00000593119.1_Silent_p.L891L|LONP1_ENST00000540670.2_Silent_p.L759L|LONP1_ENST00000585374.1_Silent_p.L841L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	955					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCCACGGCCAGCGCCTCTG	0.687000													22	72					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561106	11561106	+	Silent	SNP	G	G	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:11561106G>A	ENST00000294484.6	+	2	195	c.57G>A	c.(55-57)gaG>gaA	p.E19E	PTCHD2_ENST00000389575.3_Silent_p.E19E	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	19					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGAGCAGGAGGAGGAAGAAG	0.617000													13	26					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33692510	33692510	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr18:33692510T>A	ENST00000269187.5	-	8	2091	c.1878A>T	c.(1876-1878)ttA>ttT	p.L626F	SLC39A6_ENST00000590986.1_Missense_Mutation_p.L626F|SLC39A6_ENST00000440549.2_Missense_Mutation_p.L351F	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	626						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAGAAGTACTTAAACCACTTG	0.348000													57	87					0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743060	234743060	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:234743060G>C	ENST00000366609.3	-	2	1617	c.1587C>G	c.(1585-1587)ttC>ttG	p.F529L	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.F513L	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	529	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AAGGGAAGCAGAACTTGTGCG	0.587000													7	101					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892149	16892151	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr1:16892149_16892151delCAA	ENST00000430580.2	-	27	3928_3930	c.3041_3043delTTG	c.(3040-3045)gttggc>ggc	p.V1014del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1014	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGAGAAAAGCCAACATGTTTTTC	0.438													17	1336	---	---	---	---					
GCFC2	6936	broad.mit.edu	37	2	75919154	75919155	+	Frame_Shift_Ins	INS	-	-	TT	rs139984043		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr2:75919154_75919155insTT	ENST00000321027.3	-	7	1225_1226	c.1092_1093insAA	c.(1090-1095)aaacgcfs	p.R365fs	GCFC2_ENST00000409857.3_Frame_Shift_Ins_p.R327fs|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	365					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TCTTGCCTGCGTTTCATAAAGG	0.302													8	30	---	---	---	---					
NPAT	4863	broad.mit.edu	37	11	108032117	108032120	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:108032117_108032120delTTGT	ENST00000278612.8	-	17	3798_3801	c.3693_3696delACAA	c.(3691-3696)aaacaafs	p.KQ1231fs		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1231	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TAGTTTGTTCTTGTTTTAGATCCT	0.368													7	265	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118372424	118372425	+	Frame_Shift_Del	DEL	TA	TA	-	rs149351885		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr11:118372424_118372425delTA	ENST00000534358.1	+	26	6380_6381	c.6357_6358delTA	c.(6355-6360)attatafs	p.II2119fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.II2078fs|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.II2116fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGCTGAAATTATAAGTCCTCC	0.391													35	96	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52803642	52803642	+	RNA	DEL	T	T	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr13:52803642delT	ENST00000451298.1	-	0	938				TPTE2P2_ENST00000606973.1_RNA																							CAGTTTTCCCTTTTTTTTTTT	0.328													3	4	---	---	---	---					
WHAMMP3	339005	broad.mit.edu	37	15	23205231	23205231	+	RNA	DEL	G	G	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr15:23205231delG	ENST00000400153.2	-	0	656					NR_003521.1																						GCTCAAGTCAGGACAGTGTAA	0.333													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													8	146	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	3	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424190	47424190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr19:47424190delA	ENST00000404338.3	+	1	2258	c.2258delA	c.(2257-2259)caafs	p.Q753fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	753					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAATCAGTCAAGTTTTGAAG	0.428													7	31	---	---	---	---					
SLX4IP	128710	broad.mit.edu	37	20	10541361	10541363	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:10541361_10541363delTGT	ENST00000334534.5	+	4	311_313	c.131_133delTGT	c.(130-135)ctgtta>cta	p.44_45LL>L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GTCTGTTTACTGTTAAAAGAAAC	0.305													14	59	---	---	---	---					
MAPRE1	22919	broad.mit.edu	37	20	31434531	31434531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chr20:31434531delC	ENST00000375571.5	+	6	844	c.705delC	c.(703-705)aacfs	p.N235fs	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	235	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGGGGAAAACGACCCTGTAT	0.403													32	259	---	---	---	---					
DIAPH2	1730	broad.mit.edu	37	X	96369827	96369828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UY-A78O-01A-12D-A339-08	TCGA-UY-A78O-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a3a75d-64b4-46dc-bb9f-3f48797deaff	5ad0dd53-afc6-427d-a803-3fa946072e12	g.chrX:96369827_96369828insT	ENST00000324765.8	+	21	2799_2800	c.2452_2453insT	c.(2452-2454)actfs	p.T818fs	DIAPH2_ENST00000373049.4_Frame_Shift_Ins_p.T818fs|DIAPH2_ENST00000373054.4_Frame_Shift_Ins_p.T814fs|DIAPH2_ENST00000355827.4_Frame_Shift_Ins_p.T818fs|DIAPH2_ENST00000373061.3_Frame_Shift_Ins_p.T818fs			O60879	DIAP2_HUMAN	diaphanous-related formin 2	818	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CATAGCAGTAACTCTTGCCTGT	0.391													7	31	---	---	---	---